Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.123352464G>ACA347787ADCY5c.-72C>T (n.-72C>T)
c.217C>T (p.Arg73Trp)
c.1252C>T (p.Arg418Trp)
c.202C>T (p.Arg68Trp)
n.547C>T
c.156C>T (p.Arg52=)
c.151C>T (p.Arg51Trp)
c.253C>T (p.Arg85Trp)
c.163C>T (p.Arg55Trp)
c.154C>T (p.Arg52Trp)
ClinVar dbSNP
3g.123352464G>CCA354222550ADCY5c.-72C>G (n.-72C>G)
c.217C>G (p.Arg73Gly)
c.1252C>G (p.Arg418Gly)
c.202C>G (p.Arg68Gly)
n.547C>G
c.156C>G (p.Arg52=)
c.151C>G (p.Arg51Gly)
c.253C>G (p.Arg85Gly)
c.163C>G (p.Arg55Gly)
c.154C>G (p.Arg52Gly)
ClinVar
3g.123352464G=CA1398358757ADCY5c.-72C= (n.-72C=)
c.217C= (p.Arg73=)
c.1252C= (p.Arg418=)
c.202C= (p.Arg68=)
n.547C=
c.156C= (p.Arg52=)
c.151C= (p.Arg51=)
c.253C= (p.Arg85=)
c.163C= (p.Arg55=)
c.154C= (p.Arg52=)
3g.123352464G>TCA435296441ADCY5c.-72C>A (n.-72C>A)
c.217C>A (p.Arg73=)
c.1252C>A (p.Arg418=)
c.202C>A (p.Arg68=)
n.547C>A
c.156C>A (p.Arg52=)
c.151C>A (p.Arg51=)
c.253C>A (p.Arg85=)
c.163C>A (p.Arg55=)
c.154C>A (p.Arg52=)
3g.123352465C>ACA435296442ADCY5c.-73G>T (n.-73G>T)
c.216G>T (p.Ala72=)
c.1251G>T (p.Ala417=)
c.201G>T (p.Ala67=)
n.546G>T
c.155G>T (p.Arg52Leu)
c.150G>T (p.Ala50=)
c.252G>T (p.Ala84=)
c.162G>T (p.Ala54=)
c.153G>T (p.Ala51=)
3g.123352465C=CA1398358758ADCY5c.-73G= (n.-73G=)
c.216G= (p.Ala72=)
c.1251G= (p.Ala417=)
c.201G= (p.Ala67=)
n.546G=
c.155G= (p.Arg52=)
c.150G= (p.Ala50=)
c.252G= (p.Ala84=)
c.162G= (p.Ala54=)
c.153G= (p.Ala51=)
3g.123352465C>GCA435296443ADCY5c.-73G>C (n.-73G>C)
c.216G>C (p.Ala72=)
c.1251G>C (p.Ala417=)
c.201G>C (p.Ala67=)
n.546G>C
c.155G>C (p.Arg52Pro)
c.150G>C (p.Ala50=)
c.252G>C (p.Ala84=)
c.162G>C (p.Ala54=)
c.153G>C (p.Ala51=)
3g.123352465C>TCA82918283ADCY5c.-73G>A (n.-73G>A)
c.216G>A (p.Ala72=)
c.1251G>A (p.Ala417=)
c.201G>A (p.Ala67=)
n.546G>A
c.155G>A (p.Arg52His)
c.150G>A (p.Ala50=)
c.252G>A (p.Ala84=)
c.162G>A (p.Ala54=)
c.153G>A (p.Ala51=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123352466G>ACA354222551ADCY5c.-74C>T (n.-74C>T)
c.215C>T (p.Ala72Val)
c.1250C>T (p.Ala417Val)
c.200C>T (p.Ala67Val)
n.545C>T
c.154C>T (p.Arg52Cys)
c.149C>T (p.Ala50Val)
c.251C>T (p.Ala84Val)
c.161C>T (p.Ala54Val)
c.152C>T (p.Ala51Val)
dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.123352466G>CCA354222552ADCY5c.-74C>G (n.-74C>G)
c.215C>G (p.Ala72Gly)
c.1250C>G (p.Ala417Gly)
c.200C>G (p.Ala67Gly)
n.545C>G
c.154C>G (p.Arg52Gly)
c.149C>G (p.Ala50Gly)
c.251C>G (p.Ala84Gly)
c.161C>G (p.Ala54Gly)
c.152C>G (p.Ala51Gly)
3g.123352466G=CA1398358759ADCY5c.-74C= (n.-74C=)
c.215C= (p.Ala72=)
c.1250C= (p.Ala417=)
c.200C= (p.Ala67=)
n.545C=
c.154C= (p.Arg52=)
c.149C= (p.Ala50=)
c.251C= (p.Ala84=)
c.161C= (p.Ala54=)
c.152C= (p.Ala51=)
3g.123352466G>TCA354222553ADCY5c.-74C>A (n.-74C>A)
c.215C>A (p.Ala72Glu)
c.1250C>A (p.Ala417Glu)
c.200C>A (p.Ala67Glu)
n.545C>A
c.154C>A (p.Arg52Ser)
c.149C>A (p.Ala50Glu)
c.251C>A (p.Ala84Glu)
c.161C>A (p.Ala54Glu)
c.152C>A (p.Ala51Glu)
3g.123352467C>ACA354222554ADCY5c.-75G>T (n.-75G>T)
c.214G>T (p.Ala72Ser)
c.1249G>T (p.Ala417Ser)
c.199G>T (p.Ala67Ser)
n.544G>T
c.153G>T (p.Arg51Ser)
c.148G>T (p.Ala50Ser)
c.250G>T (p.Ala84Ser)
c.160G>T (p.Ala54Ser)
c.151G>T (p.Ala51Ser)
dbSNP
3g.123352467C=CA1398358760ADCY5c.-75G= (n.-75G=)
c.214G= (p.Ala72=)
c.1249G= (p.Ala417=)
c.199G= (p.Ala67=)
n.544G=
c.153G= (p.Arg51=)
c.148G= (p.Ala50=)
c.250G= (p.Ala84=)
c.160G= (p.Ala54=)
c.151G= (p.Ala51=)
3g.123352467C>GCA354222555ADCY5c.-75G>C (n.-75G>C)
c.214G>C (p.Ala72Pro)
c.1249G>C (p.Ala417Pro)
c.199G>C (p.Ala67Pro)
n.544G>C
c.153G>C (p.Arg51Ser)
c.148G>C (p.Ala50Pro)
c.250G>C (p.Ala84Pro)
c.160G>C (p.Ala54Pro)
c.151G>C (p.Ala51Pro)
3g.123352467C>TCA2577522ADCY5c.-75G>A (n.-75G>A)
c.214G>A (p.Ala72Thr)
c.1249G>A (p.Ala417Thr)
c.199G>A (p.Ala67Thr)
n.544G>A
c.153G>A (p.Arg51=)
c.148G>A (p.Ala50Thr)
c.250G>A (p.Ala84Thr)
c.160G>A (p.Ala54Thr)
c.151G>A (p.Ala51Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123352468C>ACA354222556ADCY5c.-76G>T (n.-76G>T)
c.213G>T (p.Gln71His)
c.1248G>T (p.Gln416His)
c.198G>T (p.Gln66His)
n.543G>T
c.152G>T (p.Arg51Met)
c.147G>T (p.Gln49His)
c.249G>T (p.Gln83His)
c.159G>T (p.Gln53His)
c.150G>T (p.Gln50His)
3g.123352468C=CA1398358761ADCY5c.-76G= (n.-76G=)
c.213G= (p.Gln71=)
c.1248G= (p.Gln416=)
c.198G= (p.Gln66=)
n.543G=
c.152G= (p.Arg51=)
c.147G= (p.Gln49=)
c.249G= (p.Gln83=)
c.159G= (p.Gln53=)
c.150G= (p.Gln50=)
3g.123352468C>GCA354222557ADCY5c.-76G>C (n.-76G>C)
c.213G>C (p.Gln71His)
c.1248G>C (p.Gln416His)
c.198G>C (p.Gln66His)
n.543G>C
c.152G>C (p.Arg51Thr)
c.147G>C (p.Gln49His)
c.249G>C (p.Gln83His)
c.159G>C (p.Gln53His)
c.150G>C (p.Gln50His)
3g.123352468C>TCA2577523ADCY5c.-76G>A (n.-76G>A)
c.213G>A (p.Gln71=)
c.1248G>A (p.Gln416=)
c.198G>A (p.Gln66=)
n.543G>A
c.152G>A (p.Arg51Lys)
c.147G>A (p.Gln49=)
c.249G>A (p.Gln83=)
c.159G>A (p.Gln53=)
c.150G>A (p.Gln50=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123352469T>ACA354222558ADCY5c.-77A>T (n.-77A>T)
c.212A>T (p.Gln71Leu)
c.1247A>T (p.Gln416Leu)
c.197A>T (p.Gln66Leu)
n.542A>T
c.151A>T (p.Arg51Trp)
c.146A>T (p.Gln49Leu)
c.248A>T (p.Gln83Leu)
c.158A>T (p.Gln53Leu)
c.149A>T (p.Gln50Leu)
3g.123352469T>CCA354222559ADCY5c.-77A>G (n.-77A>G)
c.212A>G (p.Gln71Arg)
c.1247A>G (p.Gln416Arg)
c.197A>G (p.Gln66Arg)
n.542A>G
c.151A>G (p.Arg51Gly)
c.146A>G (p.Gln49Arg)
c.248A>G (p.Gln83Arg)
c.158A>G (p.Gln53Arg)
c.149A>G (p.Gln50Arg)
3g.123352469T>GCA354222560ADCY5c.-77A>C (n.-77A>C)
c.212A>C (p.Gln71Pro)
c.1247A>C (p.Gln416Pro)
c.197A>C (p.Gln66Pro)
n.542A>C
c.151A>C (p.Arg51=)
c.146A>C (p.Gln49Pro)
c.248A>C (p.Gln83Pro)
c.158A>C (p.Gln53Pro)
c.149A>C (p.Gln50Pro)
3g.123352470G>ACA354222561ADCY5c.-78C>T (n.-78C>T)
c.211C>T (p.Gln71Ter)
c.1246C>T (p.Gln416Ter)
c.196C>T (p.Gln66Ter)
n.541C>T
c.150C>T (p.Ser50=)
c.145C>T (p.Gln49Ter)
c.247C>T (p.Gln83Ter)
c.157C>T (p.Gln53Ter)
c.148C>T (p.Gln50Ter)
dbSNP COSMIC
3g.123352470G>CCA354222562ADCY5c.-78C>G (n.-78C>G)
c.211C>G (p.Gln71Glu)
c.1246C>G (p.Gln416Glu)
c.196C>G (p.Gln66Glu)
n.541C>G
c.150C>G (p.Ser50=)
c.145C>G (p.Gln49Glu)
c.247C>G (p.Gln83Glu)
c.157C>G (p.Gln53Glu)
c.148C>G (p.Gln50Glu)
ClinVar dbSNP gnomAD v4
3g.123352470G=CA1398358762ADCY5c.-78C= (n.-78C=)
c.211C= (p.Gln71=)
c.1246C= (p.Gln416=)
c.196C= (p.Gln66=)
n.541C=
c.150C= (p.Ser50=)
c.145C= (p.Gln49=)
c.247C= (p.Gln83=)
c.157C= (p.Gln53=)
c.148C= (p.Gln50=)
3g.123352470G>TCA354222563ADCY5c.-78C>A (n.-78C>A)
c.211C>A (p.Gln71Lys)
c.1246C>A (p.Gln416Lys)
c.196C>A (p.Gln66Lys)
n.541C>A
c.150C>A (p.Ser50=)
c.145C>A (p.Gln49Lys)
c.247C>A (p.Gln83Lys)
c.157C>A (p.Gln53Lys)
c.148C>A (p.Gln50Lys)
3g.123352471G>ACA435296444ADCY5c.-79C>T (n.-79C>T)
c.210C>T (p.Ile70=)
c.1245C>T (p.Ile415=)
c.195C>T (p.Ile65=)
n.540C>T
c.149C>T (p.Ser50Phe)
c.144C>T (p.Ile48=)
c.246C>T (p.Ile82=)
c.156C>T (p.Ile52=)
c.147C>T (p.Ile49=)
3g.123352471G>CCA354222564ADCY5c.-79C>G (n.-79C>G)
c.210C>G (p.Ile70Met)
c.1245C>G (p.Ile415Met)
c.195C>G (p.Ile65Met)
n.540C>G
c.149C>G (p.Ser50Cys)
c.144C>G (p.Ile48Met)
c.246C>G (p.Ile82Met)
c.156C>G (p.Ile52Met)
c.147C>G (p.Ile49Met)
3g.123352471G>TCA435296445ADCY5c.-79C>A (n.-79C>A)
c.210C>A (p.Ile70=)
c.1245C>A (p.Ile415=)
c.195C>A (p.Ile65=)
n.540C>A
c.149C>A (p.Ser50Tyr)
c.144C>A (p.Ile48=)
c.246C>A (p.Ile82=)
c.156C>A (p.Ile52=)
c.147C>A (p.Ile49=)
3g.123352472A>CCA354222565ADCY5c.-80T>G (n.-80T>G)
c.209T>G (p.Ile70Ser)
c.1244T>G (p.Ile415Ser)
c.194T>G (p.Ile65Ser)
n.539T>G
c.148T>G (p.Ser50Ala)
c.143T>G (p.Ile48Ser)
c.245T>G (p.Ile82Ser)
c.155T>G (p.Ile52Ser)
c.146T>G (p.Ile49Ser)
3g.123352472A>GCA354222566ADCY5c.-80T>C (n.-80T>C)
c.209T>C (p.Ile70Thr)
c.1244T>C (p.Ile415Thr)
c.194T>C (p.Ile65Thr)
n.539T>C
c.148T>C (p.Ser50Pro)
c.143T>C (p.Ile48Thr)
c.245T>C (p.Ile82Thr)
c.155T>C (p.Ile52Thr)
c.146T>C (p.Ile49Thr)
3g.123352472A>TCA354222567ADCY5c.-80T>A (n.-80T>A)
c.209T>A (p.Ile70Asn)
c.1244T>A (p.Ile415Asn)
c.194T>A (p.Ile65Asn)
n.539T>A
c.148T>A (p.Ser50Thr)
c.143T>A (p.Ile48Asn)
c.245T>A (p.Ile82Asn)
c.155T>A (p.Ile52Asn)
c.146T>A (p.Ile49Asn)
3g.123352472_123352473insATGCCA645532309ADCY5c.-81_-80insGCAT (n.-81_-80insGCAT)
c.208_209insGCAT (p.Ile70SerfsTer?)
c.1243_1244insGCAT (p.Ile415SerfsTer?)
c.193_194insGCAT (p.Ile65SerfsTer?)
n.538_539insGCAT
c.147_148insGCAT (p.Ser50AlafsTer?)
c.142_143insGCAT (p.Ile48SerfsTer?)
c.244_245insGCAT (p.Ile82SerfsTer?)
c.154_155insGCAT (p.Ile52SerfsTer?)
c.145_146insGCAT (p.Ile49SerfsTer?)
COSMIC
3g.123352473T>ACA354222568ADCY5c.-81A>T (n.-81A>T)
c.208A>T (p.Ile70Phe)
c.1243A>T (p.Ile415Phe)
c.193A>T (p.Ile65Phe)
n.538A>T
c.147A>T (p.Ala49=)
c.142A>T (p.Ile48Phe)
c.244A>T (p.Ile82Phe)
c.154A>T (p.Ile52Phe)
c.145A>T (p.Ile49Phe)
3g.123352473T>CCA354222570ADCY5c.-81A>G (n.-81A>G)
c.208A>G (p.Ile70Val)
c.1243A>G (p.Ile415Val)
c.193A>G (p.Ile65Val)
n.538A>G
c.147A>G (p.Ala49=)
c.142A>G (p.Ile48Val)
c.244A>G (p.Ile82Val)
c.154A>G (p.Ile52Val)
c.145A>G (p.Ile49Val)
3g.123352473T>GCA354222569ADCY5c.-81A>C (n.-81A>C)
c.208A>C (p.Ile70Leu)
c.1243A>C (p.Ile415Leu)
c.193A>C (p.Ile65Leu)
n.538A>C
c.147A>C (p.Ala49=)
c.142A>C (p.Ile48Leu)
c.244A>C (p.Ile82Leu)
c.154A>C (p.Ile52Leu)
c.145A>C (p.Ile49Leu)
3g.123352474G>ACA435296446ADCY5c.-82C>T (n.-82C>T)
c.207C>T (p.Cys69=)
c.1242C>T (p.Cys414=)
c.192C>T (p.Cys64=)
n.537C>T
c.146C>T (p.Ala49Val)
c.141C>T (p.Cys47=)
c.243C>T (p.Cys81=)
c.153C>T (p.Cys51=)
c.144C>T (p.Cys48=)
dbSNP
3g.123352474G>CCA354222571ADCY5c.-82C>G (n.-82C>G)
c.207C>G (p.Cys69Trp)
c.1242C>G (p.Cys414Trp)
c.192C>G (p.Cys64Trp)
n.537C>G
c.146C>G (p.Ala49Gly)
c.141C>G (p.Cys47Trp)
c.243C>G (p.Cys81Trp)
c.153C>G (p.Cys51Trp)
c.144C>G (p.Cys48Trp)
3g.123352474G=CA1398358763ADCY5c.-82C= (n.-82C=)
c.207C= (p.Cys69=)
c.1242C= (p.Cys414=)
c.192C= (p.Cys64=)
n.537C=
c.146C= (p.Ala49=)
c.141C= (p.Cys47=)
c.243C= (p.Cys81=)
c.153C= (p.Cys51=)
c.144C= (p.Cys48=)
3g.123352474G>TCA354222572ADCY5c.-82C>A (n.-82C>A)
c.207C>A (p.Cys69Ter)
c.1242C>A (p.Cys414Ter)
c.192C>A (p.Cys64Ter)
n.537C>A
c.146C>A (p.Ala49Glu)
c.141C>A (p.Cys47Ter)
c.243C>A (p.Cys81Ter)
c.153C>A (p.Cys51Ter)
c.144C>A (p.Cys48Ter)
3g.123352475C>ACA354222573ADCY5c.-83G>T (n.-83G>T)
c.206G>T (p.Cys69Phe)
c.1241G>T (p.Cys414Phe)
c.191G>T (p.Cys64Phe)
n.536G>T
c.145G>T (p.Ala49Ser)
c.140G>T (p.Cys47Phe)
c.242G>T (p.Cys81Phe)
c.152G>T (p.Cys51Phe)
c.143G>T (p.Cys48Phe)
3g.123352475C>GCA354222574ADCY5c.-83G>C (n.-83G>C)
c.206G>C (p.Cys69Ser)
c.1241G>C (p.Cys414Ser)
c.191G>C (p.Cys64Ser)
n.536G>C
c.145G>C (p.Ala49Pro)
c.140G>C (p.Cys47Ser)
c.242G>C (p.Cys81Ser)
c.152G>C (p.Cys51Ser)
c.143G>C (p.Cys48Ser)
gnomAD v4
3g.123352475C>TCA354222575ADCY5c.-83G>A (n.-83G>A)
c.206G>A (p.Cys69Tyr)
c.1241G>A (p.Cys414Tyr)
c.191G>A (p.Cys64Tyr)
n.536G>A
c.145G>A (p.Ala49Thr)
c.140G>A (p.Cys47Tyr)
c.242G>A (p.Cys81Tyr)
c.152G>A (p.Cys51Tyr)
c.143G>A (p.Cys48Tyr)
3g.123352476A>CCA354222576ADCY5c.-84T>G (n.-84T>G)
c.205T>G (p.Cys69Gly)
c.1240T>G (p.Cys414Gly)
c.190T>G (p.Cys64Gly)
n.535T>G
c.144T>G (p.Ser48Arg)
c.139T>G (p.Cys47Gly)
c.241T>G (p.Cys81Gly)
c.151T>G (p.Cys51Gly)
c.142T>G (p.Cys48Gly)
3g.123352476A>GCA354222577ADCY5c.-84T>C (n.-84T>C)
c.205T>C (p.Cys69Arg)
c.1240T>C (p.Cys414Arg)
c.190T>C (p.Cys64Arg)
n.535T>C
c.144T>C (p.Ser48=)
c.139T>C (p.Cys47Arg)
c.241T>C (p.Cys81Arg)
c.151T>C (p.Cys51Arg)
c.142T>C (p.Cys48Arg)
3g.123352476A>TCA354222578ADCY5c.-84T>A (n.-84T>A)
c.205T>A (p.Cys69Ser)
c.1240T>A (p.Cys414Ser)
c.190T>A (p.Cys64Ser)
n.535T>A
c.144T>A (p.Ser48Arg)
c.139T>A (p.Cys47Ser)
c.241T>A (p.Cys81Ser)
c.151T>A (p.Cys51Ser)
c.142T>A (p.Cys48Ser)
3g.123352477C>ACA354222579ADCY5c.-85G>T (n.-85G>T)
c.204G>T (p.Glu68Asp)
c.1239G>T (p.Glu413Asp)
c.189G>T (p.Glu63Asp)
n.534G>T
c.143G>T (p.Ser48Ile)
c.138G>T (p.Glu46Asp)
c.240G>T (p.Glu80Asp)
c.150G>T (p.Glu50Asp)
c.141G>T (p.Glu47Asp)
3g.123352477C=CA1398358764ADCY5c.-85G= (n.-85G=)
c.204G= (p.Glu68=)
c.1239G= (p.Glu413=)
c.189G= (p.Glu63=)
n.534G=
c.143G= (p.Ser48=)
c.138G= (p.Glu46=)
c.240G= (p.Glu80=)
c.150G= (p.Glu50=)
c.141G= (p.Glu47=)
3g.123352477C>GCA354222580ADCY5c.-85G>C (n.-85G>C)
c.204G>C (p.Glu68Asp)
c.1239G>C (p.Glu413Asp)
c.189G>C (p.Glu63Asp)
n.534G>C
c.143G>C (p.Ser48Thr)
c.138G>C (p.Glu46Asp)
c.240G>C (p.Glu80Asp)
c.150G>C (p.Glu50Asp)
c.141G>C (p.Glu47Asp)
3g.123352477C>TCA2577524ADCY5c.-85G>A (n.-85G>A)
c.204G>A (p.Glu68=)
c.1239G>A (p.Glu413=)
c.189G>A (p.Glu63=)
n.534G>A
c.143G>A (p.Ser48Asn)
c.138G>A (p.Glu46=)
c.240G>A (p.Glu80=)
c.150G>A (p.Glu50=)
c.141G>A (p.Glu47=)
dbSNP ExAC gnomAD v3 gnomAD v4
3g.123352478T>ACA354222582ADCY5c.-86A>T (n.-86A>T)
c.203A>T (p.Glu68Val)
c.1238A>T (p.Glu413Val)
c.188A>T (p.Glu63Val)
n.533A>T
c.142A>T (p.Ser48Cys)
c.137A>T (p.Glu46Val)
c.239A>T (p.Glu80Val)
c.149A>T (p.Glu50Val)
c.140A>T (p.Glu47Val)
3g.123352478T>CCA354222583ADCY5c.-86A>G (n.-86A>G)
c.203A>G (p.Glu68Gly)
c.1238A>G (p.Glu413Gly)
c.188A>G (p.Glu63Gly)
n.533A>G
c.142A>G (p.Ser48Gly)
c.137A>G (p.Glu46Gly)
c.239A>G (p.Glu80Gly)
c.149A>G (p.Glu50Gly)
c.140A>G (p.Glu47Gly)
3g.123352478T>GCA354222581ADCY5c.-86A>C (n.-86A>C)
c.203A>C (p.Glu68Ala)
c.1238A>C (p.Glu413Ala)
c.188A>C (p.Glu63Ala)
n.533A>C
c.142A>C (p.Ser48Arg)
c.137A>C (p.Glu46Ala)
c.239A>C (p.Glu80Ala)
c.149A>C (p.Glu50Ala)
c.140A>C (p.Glu47Ala)
3g.123352479C>ACA354222585ADCY5c.-87G>T (n.-87G>T)
c.202G>T (p.Glu68Ter)
c.1237G>T (p.Glu413Ter)
c.187G>T (p.Glu63Ter)
n.532G>T
c.141G>T (p.Glu47Asp)
c.136G>T (p.Glu46Ter)
c.238G>T (p.Glu80Ter)
c.148G>T (p.Glu50Ter)
c.139G>T (p.Glu47Ter)
dbSNP
3g.123352479C=CA1398358765ADCY5c.-87G= (n.-87G=)
c.202G= (p.Glu68=)
c.1237G= (p.Glu413=)
c.187G= (p.Glu63=)
n.532G=
c.141G= (p.Glu47=)
c.136G= (p.Glu46=)
c.238G= (p.Glu80=)
c.148G= (p.Glu50=)
c.139G= (p.Glu47=)
3g.123352479C>GCA354222584ADCY5c.-87G>C (n.-87G>C)
c.202G>C (p.Glu68Gln)
c.1237G>C (p.Glu413Gln)
c.187G>C (p.Glu63Gln)
n.532G>C
c.141G>C (p.Glu47Asp)
c.136G>C (p.Glu46Gln)
c.238G>C (p.Glu80Gln)
c.148G>C (p.Glu50Gln)
c.139G>C (p.Glu47Gln)
3g.123352479C>TCA354222586ADCY5c.-87G>A (n.-87G>A)
c.202G>A (p.Glu68Lys)
c.1237G>A (p.Glu413Lys)
c.187G>A (p.Glu63Lys)
n.532G>A
c.141G>A (p.Glu47=)
c.136G>A (p.Glu46Lys)
c.238G>A (p.Glu80Lys)
c.148G>A (p.Glu50Lys)
c.139G>A (p.Glu47Lys)
3g.123352480T>ACA435296447ADCY5c.-88A>T (n.-88A>T)
c.201A>T (p.Arg67=)
c.1236A>T (p.Arg412=)
c.186A>T (p.Arg62=)
n.531A>T
c.140A>T (p.Glu47Val)
c.135A>T (p.Arg45=)
c.237A>T (p.Arg79=)
c.147A>T (p.Arg49=)
c.138A>T (p.Arg46=)
3g.123352480T>CCA435296448ADCY5c.-88A>G (n.-88A>G)
c.201A>G (p.Arg67=)
c.1236A>G (p.Arg412=)
c.186A>G (p.Arg62=)
n.531A>G
c.140A>G (p.Glu47Gly)
c.135A>G (p.Arg45=)
c.237A>G (p.Arg79=)
c.147A>G (p.Arg49=)
c.138A>G (p.Arg46=)
3g.123352480T>GCA435296449ADCY5c.-88A>C (n.-88A>C)
c.201A>C (p.Arg67=)
c.1236A>C (p.Arg412=)
c.186A>C (p.Arg62=)
n.531A>C
c.140A>C (p.Glu47Ala)
c.135A>C (p.Arg45=)
c.237A>C (p.Arg79=)
c.147A>C (p.Arg49=)
c.138A>C (p.Arg46=)
3g.123352481C>ACA354222587ADCY5c.-89G>T (n.-89G>T)
c.200G>T (p.Arg67Leu)
c.1235G>T (p.Arg412Leu)
c.185G>T (p.Arg62Leu)
n.530G>T
c.139G>T (p.Glu47Ter)
c.134G>T (p.Arg45Leu)
c.236G>T (p.Arg79Leu)
c.146G>T (p.Arg49Leu)
c.137G>T (p.Arg46Leu)
ClinVar
3g.123352481C>GCA354222589ADCY5c.-89G>C (n.-89G>C)
c.200G>C (p.Arg67Pro)
c.1235G>C (p.Arg412Pro)
c.185G>C (p.Arg62Pro)
n.530G>C
c.139G>C (p.Glu47Gln)
c.134G>C (p.Arg45Pro)
c.236G>C (p.Arg79Pro)
c.146G>C (p.Arg49Pro)
c.137G>C (p.Arg46Pro)
gnomAD v4
3g.123352481C>TCA354222588ADCY5c.-89G>A (n.-89G>A)
c.200G>A (p.Arg67Gln)
c.1235G>A (p.Arg412Gln)
c.185G>A (p.Arg62Gln)
n.530G>A
c.139G>A (p.Glu47Lys)
c.134G>A (p.Arg45Gln)
c.236G>A (p.Arg79Gln)
c.146G>A (p.Arg49Gln)
c.137G>A (p.Arg46Gln)
gnomAD v4
3g.123352482G>ACA354222590ADCY5c.-90C>T (n.-90C>T)
c.199C>T (p.Arg67Ter)
c.1234C>T (p.Arg412Ter)
c.184C>T (p.Arg62Ter)
n.529C>T
c.138C>T (p.Pro46=)
c.133C>T (p.Arg45Ter)
c.235C>T (p.Arg79Ter)
c.145C>T (p.Arg49Ter)
c.136C>T (p.Arg46Ter)
dbSNP gnomAD v2
3g.123352482G>CCA354222591ADCY5c.-90C>G (n.-90C>G)
c.199C>G (p.Arg67Gly)
c.1234C>G (p.Arg412Gly)
c.184C>G (p.Arg62Gly)
n.529C>G
c.138C>G (p.Pro46=)
c.133C>G (p.Arg45Gly)
c.235C>G (p.Arg79Gly)
c.145C>G (p.Arg49Gly)
c.136C>G (p.Arg46Gly)
3g.123352482G=CA1398358766ADCY5c.-90C= (n.-90C=)
c.199C= (p.Arg67=)
c.1234C= (p.Arg412=)
c.184C= (p.Arg62=)
n.529C=
c.138C= (p.Pro46=)
c.133C= (p.Arg45=)
c.235C= (p.Arg79=)
c.145C= (p.Arg49=)
c.136C= (p.Arg46=)
3g.123352482G>TCA435296450ADCY5c.-90C>A (n.-90C>A)
c.199C>A (p.Arg67=)
c.1234C>A (p.Arg412=)
c.184C>A (p.Arg62=)
n.529C>A
c.138C>A (p.Pro46=)
c.133C>A (p.Arg45=)
c.235C>A (p.Arg79=)
c.145C>A (p.Arg49=)
c.136C>A (p.Arg46=)
3g.123352484delCA2667300401ADCY5c.-90del (n.-90del)
c.199del (p.Arg67GlufsTer?)
c.1234del (p.Arg412GlufsTer?)
c.184del (p.Arg62GlufsTer?)
n.529del
c.138del (p.Glu47ArgfsTer?)
c.133del (p.Arg45GlufsTer?)
c.235del (p.Arg79GlufsTer?)
c.145del (p.Arg49GlufsTer?)
c.136del (p.Arg46GlufsTer?)
gnomAD v4
3g.123352483G>ACA435296451ADCY5c.-91C>T (n.-91C>T)
c.198C>T (p.Thr66=)
c.1233C>T (p.Thr411=)
c.183C>T (p.Thr61=)
n.528C>T
c.137C>T (p.Pro46Leu)
c.132C>T (p.Thr44=)
c.234C>T (p.Thr78=)
c.144C>T (p.Thr48=)
c.135C>T (p.Thr45=)
gnomAD v4
3g.123352483G>CCA435296452ADCY5c.-91C>G (n.-91C>G)
c.198C>G (p.Thr66=)
c.1233C>G (p.Thr411=)
c.183C>G (p.Thr61=)
n.528C>G
c.137C>G (p.Pro46Arg)
c.132C>G (p.Thr44=)
c.234C>G (p.Thr78=)
c.144C>G (p.Thr48=)
c.135C>G (p.Thr45=)
3g.123352483G=CA1398358767ADCY5c.-91C= (n.-91C=)
c.198C= (p.Thr66=)
c.1233C= (p.Thr411=)
c.183C= (p.Thr61=)
n.528C=
c.137C= (p.Pro46=)
c.132C= (p.Thr44=)
c.234C= (p.Thr78=)
c.144C= (p.Thr48=)
c.135C= (p.Thr45=)
3g.123352483G>TCA2577525ADCY5c.-91C>A (n.-91C>A)
c.198C>A (p.Thr66=)
c.1233C>A (p.Thr411=)
c.183C>A (p.Thr61=)
n.528C>A
c.137C>A (p.Pro46His)
c.132C>A (p.Thr44=)
c.234C>A (p.Thr78=)
c.144C>A (p.Thr48=)
c.135C>A (p.Thr45=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123352484G>ACA354222594ADCY5c.-92C>T (n.-92C>T)
c.197C>T (p.Thr66Ile)
c.1232C>T (p.Thr411Ile)
c.182C>T (p.Thr61Ile)
n.527C>T
c.136C>T (p.Pro46Ser)
c.131C>T (p.Thr44Ile)
c.233C>T (p.Thr78Ile)
c.143C>T (p.Thr48Ile)
c.134C>T (p.Thr45Ile)
3g.123352484G>CCA354222592ADCY5c.-92C>G (n.-92C>G)
c.197C>G (p.Thr66Ser)
c.1232C>G (p.Thr411Ser)
c.182C>G (p.Thr61Ser)
n.527C>G
c.136C>G (p.Pro46Ala)
c.131C>G (p.Thr44Ser)
c.233C>G (p.Thr78Ser)
c.143C>G (p.Thr48Ser)
c.134C>G (p.Thr45Ser)
3g.123352484G>TCA354222593ADCY5c.-92C>A (n.-92C>A)
c.197C>A (p.Thr66Asn)
c.1232C>A (p.Thr411Asn)
c.182C>A (p.Thr61Asn)
n.527C>A
c.136C>A (p.Pro46Thr)
c.131C>A (p.Thr44Asn)
c.233C>A (p.Thr78Asn)
c.143C>A (p.Thr48Asn)
c.134C>A (p.Thr45Asn)
3g.123352485T>ACA354222595ADCY5c.-93A>T (n.-93A>T)
c.196A>T (p.Thr66Ser)
c.1231A>T (p.Thr411Ser)
c.181A>T (p.Thr61Ser)
n.526A>T
c.135A>T (p.Arg45Ser)
c.130A>T (p.Thr44Ser)
c.232A>T (p.Thr78Ser)
c.142A>T (p.Thr48Ser)
c.133A>T (p.Thr45Ser)
3g.123352485T>CCA354222596ADCY5c.-93A>G (n.-93A>G)
c.196A>G (p.Thr66Ala)
c.1231A>G (p.Thr411Ala)
c.181A>G (p.Thr61Ala)
n.526A>G
c.135A>G (p.Arg45=)
c.130A>G (p.Thr44Ala)
c.232A>G (p.Thr78Ala)
c.142A>G (p.Thr48Ala)
c.133A>G (p.Thr45Ala)
3g.123352485T>GCA354222597ADCY5c.-93A>C (n.-93A>C)
c.196A>C (p.Thr66Pro)
c.1231A>C (p.Thr411Pro)
c.181A>C (p.Thr61Pro)
n.526A>C
c.135A>C (p.Arg45Ser)
c.130A>C (p.Thr44Pro)
c.232A>C (p.Thr78Pro)
c.142A>C (p.Thr48Pro)
c.133A>C (p.Thr45Pro)
3g.123352486C>ACA354222598ADCY5c.-94G>T (n.-94G>T)
c.195G>T (p.Glu65Asp)
c.1230G>T (p.Glu410Asp)
c.180G>T (p.Glu60Asp)
n.525G>T
c.134G>T (p.Arg45Ile)
c.129G>T (p.Glu43Asp)
c.231G>T (p.Glu77Asp)
c.141G>T (p.Glu47Asp)
c.132G>T (p.Glu44Asp)
3g.123352486C=CA1398358768ADCY5c.-94G= (n.-94G=)
c.195G= (p.Glu65=)
c.1230G= (p.Glu410=)
c.180G= (p.Glu60=)
n.525G=
c.134G= (p.Arg45=)
c.129G= (p.Glu43=)
c.231G= (p.Glu77=)
c.141G= (p.Glu47=)
c.132G= (p.Glu44=)
3g.123352486C>GCA2577526ADCY5c.-94G>C (n.-94G>C)
c.195G>C (p.Glu65Asp)
c.1230G>C (p.Glu410Asp)
c.180G>C (p.Glu60Asp)
n.525G>C
c.134G>C (p.Arg45Thr)
c.129G>C (p.Glu43Asp)
c.231G>C (p.Glu77Asp)
c.141G>C (p.Glu47Asp)
c.132G>C (p.Glu44Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123352486C>TCA435296454ADCY5c.-94G>A (n.-94G>A)
c.195G>A (p.Glu65=)
c.1230G>A (p.Glu410=)
c.180G>A (p.Glu60=)
n.525G>A
c.134G>A (p.Arg45Lys)
c.129G>A (p.Glu43=)
c.231G>A (p.Glu77=)
c.141G>A (p.Glu47=)
c.132G>A (p.Glu44=)
3g.123352487T>ACA354222601ADCY5c.-95A>T (n.-95A>T)
c.194A>T (p.Glu65Val)
c.1229A>T (p.Glu410Val)
c.179A>T (p.Glu60Val)
n.524A>T
c.133A>T (p.Arg45Ter)
c.128A>T (p.Glu43Val)
c.230A>T (p.Glu77Val)
c.140A>T (p.Glu47Val)
c.131A>T (p.Glu44Val)
3g.123352487T>CCA354222599ADCY5c.-95A>G (n.-95A>G)
c.194A>G (p.Glu65Gly)
c.1229A>G (p.Glu410Gly)
c.179A>G (p.Glu60Gly)
n.524A>G
c.133A>G (p.Arg45Gly)
c.128A>G (p.Glu43Gly)
c.230A>G (p.Glu77Gly)
c.140A>G (p.Glu47Gly)
c.131A>G (p.Glu44Gly)
3g.123352487T>GCA354222600ADCY5c.-95A>C (n.-95A>C)
c.194A>C (p.Glu65Ala)
c.1229A>C (p.Glu410Ala)
c.179A>C (p.Glu60Ala)
n.524A>C
c.133A>C (p.Arg45=)
c.128A>C (p.Glu43Ala)
c.230A>C (p.Glu77Ala)
c.140A>C (p.Glu47Ala)
c.131A>C (p.Glu44Ala)
3g.123352488C>ACA354222602ADCY5c.-96G>T (n.-96G>T)
c.193G>T (p.Glu65Ter)
c.1228G>T (p.Glu410Ter)
c.178G>T (p.Glu60Ter)
n.523G>T
c.132G>T (p.Arg44Ser)
c.127G>T (p.Glu43Ter)
c.229G>T (p.Glu77Ter)
c.139G>T (p.Glu47Ter)
c.130G>T (p.Glu44Ter)
3g.123352488C>GCA354222603ADCY5c.-96G>C (n.-96G>C)
c.193G>C (p.Glu65Gln)
c.1228G>C (p.Glu410Gln)
c.178G>C (p.Glu60Gln)
n.523G>C
c.132G>C (p.Arg44Ser)
c.127G>C (p.Glu43Gln)
c.229G>C (p.Glu77Gln)
c.139G>C (p.Glu47Gln)
c.130G>C (p.Glu44Gln)
3g.123352488C>TCA354222604ADCY5c.-96G>A (n.-96G>A)
c.193G>A (p.Glu65Lys)
c.1228G>A (p.Glu410Lys)
c.178G>A (p.Glu60Lys)
n.523G>A
c.132G>A (p.Arg44=)
c.127G>A (p.Glu43Lys)
c.229G>A (p.Glu77Lys)
c.139G>A (p.Glu47Lys)
c.130G>A (p.Glu44Lys)
3g.123352489C>ACA354222605ADCY5c.-97G>T (n.-97G>T)
c.192G>T (p.Gln64His)
c.1227G>T (p.Gln409His)
c.177G>T (p.Gln59His)
n.522G>T
c.131G>T (p.Arg44Met)
c.126G>T (p.Gln42His)
c.228G>T (p.Gln76His)
c.138G>T (p.Gln46His)
c.129G>T (p.Gln43His)
3g.123352489C>GCA354222606ADCY5c.-97G>C (n.-97G>C)
c.192G>C (p.Gln64His)
c.1227G>C (p.Gln409His)
c.177G>C (p.Gln59His)
n.522G>C
c.131G>C (p.Arg44Thr)
c.126G>C (p.Gln42His)
c.228G>C (p.Gln76His)
c.138G>C (p.Gln46His)
c.129G>C (p.Gln43His)
3g.123352489C>TCA435296455ADCY5c.-97G>A (n.-97G>A)
c.192G>A (p.Gln64=)
c.1227G>A (p.Gln409=)
c.177G>A (p.Gln59=)
n.522G>A
c.131G>A (p.Arg44Lys)
c.126G>A (p.Gln42=)
c.228G>A (p.Gln76=)
c.138G>A (p.Gln46=)
c.129G>A (p.Gln43=)
3g.123352490T>ACA354222607ADCY5c.-98A>T (n.-98A>T)
c.191A>T (p.Gln64Leu)
c.1226A>T (p.Gln409Leu)
c.176A>T (p.Gln59Leu)
n.521A>T
c.130A>T (p.Arg44Trp)
c.125A>T (p.Gln42Leu)
c.227A>T (p.Gln76Leu)
c.137A>T (p.Gln46Leu)
c.128A>T (p.Gln43Leu)
gnomAD v4
3g.123352490T>CCA354222609ADCY5c.-98A>G (n.-98A>G)
c.191A>G (p.Gln64Arg)
c.1226A>G (p.Gln409Arg)
c.176A>G (p.Gln59Arg)
n.521A>G
c.130A>G (p.Arg44Gly)
c.125A>G (p.Gln42Arg)
c.227A>G (p.Gln76Arg)
c.137A>G (p.Gln46Arg)
c.128A>G (p.Gln43Arg)
3g.123352490T>GCA354222608ADCY5c.-98A>C (n.-98A>C)
c.191A>C (p.Gln64Pro)
c.1226A>C (p.Gln409Pro)
c.176A>C (p.Gln59Pro)
n.521A>C
c.130A>C (p.Arg44=)
c.125A>C (p.Gln42Pro)
c.227A>C (p.Gln76Pro)
c.137A>C (p.Gln46Pro)
c.128A>C (p.Gln43Pro)
3g.123352491G>ACA354222610ADCY5c.-99C>T (n.-99C>T)
c.190C>T (p.Gln64Ter)
c.1225C>T (p.Gln409Ter)
c.175C>T (p.Gln59Ter)
n.520C>T
c.129C>T (p.Ser43=)
c.124C>T (p.Gln42Ter)
c.226C>T (p.Gln76Ter)
c.136C>T (p.Gln46Ter)
c.127C>T (p.Gln43Ter)
3g.123352491G>CCA354222611ADCY5c.-99C>G (n.-99C>G)
c.190C>G (p.Gln64Glu)
c.1225C>G (p.Gln409Glu)
c.175C>G (p.Gln59Glu)
n.520C>G
c.129C>G (p.Ser43=)
c.124C>G (p.Gln42Glu)
c.226C>G (p.Gln76Glu)
c.136C>G (p.Gln46Glu)
c.127C>G (p.Gln43Glu)
3g.123352491G>TCA354222612ADCY5c.-99C>A (n.-99C>A)
c.190C>A (p.Gln64Lys)
c.1225C>A (p.Gln409Lys)
c.175C>A (p.Gln59Lys)
n.520C>A
c.129C>A (p.Ser43=)
c.124C>A (p.Gln42Lys)
c.226C>A (p.Gln76Lys)
c.136C>A (p.Gln46Lys)
c.127C>A (p.Gln43Lys)
3g.123352492G>ACA435296456ADCY5c.-100C>T (n.-100C>T)
c.189C>T (p.Phe63=)
c.1224C>T (p.Phe408=)
c.174C>T (p.Phe58=)
n.519C>T
c.128C>T (p.Ser43Phe)
c.123C>T (p.Phe41=)
c.225C>T (p.Phe75=)
c.135C>T (p.Phe45=)
c.126C>T (p.Phe42=)
3g.123352492G>CCA354222613ADCY5c.-100C>G (n.-100C>G)
c.189C>G (p.Phe63Leu)
c.1224C>G (p.Phe408Leu)
c.174C>G (p.Phe58Leu)
n.519C>G
c.128C>G (p.Ser43Cys)
c.123C>G (p.Phe41Leu)
c.225C>G (p.Phe75Leu)
c.135C>G (p.Phe45Leu)
c.126C>G (p.Phe42Leu)
3g.123352492G>TCA354222614ADCY5c.-100C>A (n.-100C>A)
c.189C>A (p.Phe63Leu)
c.1224C>A (p.Phe408Leu)
c.174C>A (p.Phe58Leu)
n.519C>A
c.128C>A (p.Ser43Tyr)
c.123C>A (p.Phe41Leu)
c.225C>A (p.Phe75Leu)
c.135C>A (p.Phe45Leu)
c.126C>A (p.Phe42Leu)
3g.123352493A>CCA354222615ADCY5c.-101T>G (n.-101T>G)
c.188T>G (p.Phe63Cys)
c.1223T>G (p.Phe408Cys)
c.173T>G (p.Phe58Cys)
n.518T>G
c.127T>G (p.Ser43Ala)
c.122T>G (p.Phe41Cys)
c.224T>G (p.Phe75Cys)
c.134T>G (p.Phe45Cys)
c.125T>G (p.Phe42Cys)
3g.123352493A>GCA354222616ADCY5c.-101T>C (n.-101T>C)
c.188T>C (p.Phe63Ser)
c.1223T>C (p.Phe408Ser)
c.173T>C (p.Phe58Ser)
n.518T>C
c.127T>C (p.Ser43Pro)
c.122T>C (p.Phe41Ser)
c.224T>C (p.Phe75Ser)
c.134T>C (p.Phe45Ser)
c.125T>C (p.Phe42Ser)
3g.123352493A>TCA354222617ADCY5c.-101T>A (n.-101T>A)
c.188T>A (p.Phe63Tyr)
c.1223T>A (p.Phe408Tyr)
c.173T>A (p.Phe58Tyr)
n.518T>A
c.127T>A (p.Ser43Thr)
c.122T>A (p.Phe41Tyr)
c.224T>A (p.Phe75Tyr)
c.134T>A (p.Phe45Tyr)
c.125T>A (p.Phe42Tyr)
3g.123352494A>CCA354222618ADCY5c.-102T>G (n.-102T>G)
c.187T>G (p.Phe63Val)
c.1222T>G (p.Phe408Val)
c.172T>G (p.Phe58Val)
n.517T>G
c.126T>G (p.Leu42=)
c.121T>G (p.Phe41Val)
c.223T>G (p.Phe75Val)
c.133T>G (p.Phe45Val)
c.124T>G (p.Phe42Val)
3g.123352494A>GCA354222619ADCY5c.-102T>C (n.-102T>C)
c.187T>C (p.Phe63Leu)
c.1222T>C (p.Phe408Leu)
c.172T>C (p.Phe58Leu)
n.517T>C
c.126T>C (p.Leu42=)
c.121T>C (p.Phe41Leu)
c.223T>C (p.Phe75Leu)
c.133T>C (p.Phe45Leu)
c.124T>C (p.Phe42Leu)
3g.123352494A>TCA354222620ADCY5c.-102T>A (n.-102T>A)
c.187T>A (p.Phe63Ile)
c.1222T>A (p.Phe408Ile)
c.172T>A (p.Phe58Ile)
n.517T>A
c.126T>A (p.Leu42=)
c.121T>A (p.Phe41Ile)
c.223T>A (p.Phe75Ile)
c.133T>A (p.Phe45Ile)
c.124T>A (p.Phe42Ile)
3g.123352495A>CCA435296457ADCY5c.-103T>G (n.-103T>G)
c.186T>G (p.Ala62=)
c.1221T>G (p.Ala407=)
c.171T>G (p.Ala57=)
n.516T>G
c.125T>G (p.Leu42Arg)
c.120T>G (p.Ala40=)
c.222T>G (p.Ala74=)
c.132T>G (p.Ala44=)
c.123T>G (p.Ala41=)
3g.123352495A>GCA435296458ADCY5c.-103T>C (n.-103T>C)
c.186T>C (p.Ala62=)
c.1221T>C (p.Ala407=)
c.171T>C (p.Ala57=)
n.516T>C
c.125T>C (p.Leu42Pro)
c.120T>C (p.Ala40=)
c.222T>C (p.Ala74=)
c.132T>C (p.Ala44=)
c.123T>C (p.Ala41=)
3g.123352495A>TCA435296459ADCY5c.-103T>A (n.-103T>A)
c.186T>A (p.Ala62=)
c.1221T>A (p.Ala407=)
c.171T>A (p.Ala57=)
n.516T>A
c.125T>A (p.Leu42His)
c.120T>A (p.Ala40=)
c.222T>A (p.Ala74=)
c.132T>A (p.Ala44=)
c.123T>A (p.Ala41=)
3g.123352496G>ACA354222621ADCY5c.-104C>T (n.-104C>T)
c.185C>T (p.Ala62Val)
c.1220C>T (p.Ala407Val)
c.170C>T (p.Ala57Val)
n.515C>T
c.124C>T (p.Leu42Phe)
c.119C>T (p.Ala40Val)
c.221C>T (p.Ala74Val)
c.131C>T (p.Ala44Val)
c.122C>T (p.Ala41Val)
dbSNP gnomAD v3 gnomAD v4
3g.123352496G>CCA354222623ADCY5c.-104C>G (n.-104C>G)
c.185C>G (p.Ala62Gly)
c.1220C>G (p.Ala407Gly)
c.170C>G (p.Ala57Gly)
n.515C>G
c.124C>G (p.Leu42Val)
c.119C>G (p.Ala40Gly)
c.221C>G (p.Ala74Gly)
c.131C>G (p.Ala44Gly)
c.122C>G (p.Ala41Gly)
3g.123352496G=CA1398358769ADCY5c.-104C= (n.-104C=)
c.185C= (p.Ala62=)
c.1220C= (p.Ala407=)
c.170C= (p.Ala57=)
n.515C=
c.124C= (p.Leu42=)
c.119C= (p.Ala40=)
c.221C= (p.Ala74=)
c.131C= (p.Ala44=)
c.122C= (p.Ala41=)
3g.123352496G>TCA354222622ADCY5c.-104C>A (n.-104C>A)
c.185C>A (p.Ala62Asp)
c.1220C>A (p.Ala407Asp)
c.170C>A (p.Ala57Asp)
n.515C>A
c.124C>A (p.Leu42Ile)
c.119C>A (p.Ala40Asp)
c.221C>A (p.Ala74Asp)
c.131C>A (p.Ala44Asp)
c.122C>A (p.Ala41Asp)
3g.123352497C>ACA354222624ADCY5c.-105G>T (n.-105G>T)
c.184G>T (p.Ala62Ser)
c.1219G>T (p.Ala407Ser)
c.169G>T (p.Ala57Ser)
n.514G>T
c.123G>T (p.Arg41Ser)
c.118G>T (p.Ala40Ser)
c.220G>T (p.Ala74Ser)
c.130G>T (p.Ala44Ser)
c.121G>T (p.Ala41Ser)
3g.123352497C=CA1398358770ADCY5c.-105G= (n.-105G=)
c.184G= (p.Ala62=)
c.1219G= (p.Ala407=)
c.169G= (p.Ala57=)
n.514G=
c.123G= (p.Arg41=)
c.118G= (p.Ala40=)
c.220G= (p.Ala74=)
c.130G= (p.Ala44=)
c.121G= (p.Ala41=)
3g.123352497C>GCA354222625ADCY5c.-105G>C (n.-105G>C)
c.184G>C (p.Ala62Pro)
c.1219G>C (p.Ala407Pro)
c.169G>C (p.Ala57Pro)
n.514G>C
c.123G>C (p.Arg41Ser)
c.118G>C (p.Ala40Pro)
c.220G>C (p.Ala74Pro)
c.130G>C (p.Ala44Pro)
c.121G>C (p.Ala41Pro)
3g.123352497C>TCA354222626ADCY5c.-105G>A (n.-105G>A)
c.184G>A (p.Ala62Thr)
c.1219G>A (p.Ala407Thr)
c.169G>A (p.Ala57Thr)
n.514G>A
c.123G>A (p.Arg41=)
c.118G>A (p.Ala40Thr)
c.220G>A (p.Ala74Thr)
c.130G>A (p.Ala44Thr)
c.121G>A (p.Ala41Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.123352498C>ACA354222627ADCY5c.-106G>T (n.-106G>T)
c.183G>T (p.Gln61His)
c.1218G>T (p.Gln406His)
c.168G>T (p.Gln56His)
n.513G>T
c.122G>T (p.Arg41Met)
c.117G>T (p.Gln39His)
c.219G>T (p.Gln73His)
c.129G>T (p.Gln43His)
c.120G>T (p.Gln40His)
3g.123352498C>GCA354222628ADCY5c.-106G>C (n.-106G>C)
c.183G>C (p.Gln61His)
c.1218G>C (p.Gln406His)
c.168G>C (p.Gln56His)
n.513G>C
c.122G>C (p.Arg41Thr)
c.117G>C (p.Gln39His)
c.219G>C (p.Gln73His)
c.129G>C (p.Gln43His)
c.120G>C (p.Gln40His)
3g.123352498C>TCA435296460ADCY5c.-106G>A (n.-106G>A)
c.183G>A (p.Gln61=)
c.1218G>A (p.Gln406=)
c.168G>A (p.Gln56=)
n.513G>A
c.122G>A (p.Arg41Lys)
c.117G>A (p.Gln39=)
c.219G>A (p.Gln73=)
c.129G>A (p.Gln43=)
c.120G>A (p.Gln40=)
3g.123352499T>ACA354222629ADCY5c.-107A>T (n.-107A>T)
c.182A>T (p.Gln61Leu)
c.1217A>T (p.Gln406Leu)
c.167A>T (p.Gln56Leu)
n.512A>T
c.121A>T (p.Arg41Trp)
c.116A>T (p.Gln39Leu)
c.218A>T (p.Gln73Leu)
c.128A>T (p.Gln43Leu)
c.119A>T (p.Gln40Leu)
3g.123352499T>CCA354222630ADCY5c.-107A>G (n.-107A>G)
c.182A>G (p.Gln61Arg)
c.1217A>G (p.Gln406Arg)
c.167A>G (p.Gln56Arg)
n.512A>G
c.121A>G (p.Arg41Gly)
c.116A>G (p.Gln39Arg)
c.218A>G (p.Gln73Arg)
c.128A>G (p.Gln43Arg)
c.119A>G (p.Gln40Arg)
dbSNP gnomAD v2
3g.123352499T>GCA354222631ADCY5c.-107A>C (n.-107A>C)
c.182A>C (p.Gln61Pro)
c.1217A>C (p.Gln406Pro)
c.167A>C (p.Gln56Pro)
n.512A>C
c.121A>C (p.Arg41=)
c.116A>C (p.Gln39Pro)
c.218A>C (p.Gln73Pro)
c.128A>C (p.Gln43Pro)
c.119A>C (p.Gln40Pro)
3g.123352499T=CA1398358771ADCY5c.-107A= (n.-107A=)
c.182A= (p.Gln61=)
c.1217A= (p.Gln406=)
c.167A= (p.Gln56=)
n.512A=
c.121A= (p.Arg41=)
c.116A= (p.Gln39=)
c.218A= (p.Gln73=)
c.128A= (p.Gln43=)
c.119A= (p.Gln40=)
3g.123352500G>ACA354222632ADCY5c.-108C>T (n.-108C>T)
c.181C>T (p.Gln61Ter)
c.1216C>T (p.Gln406Ter)
c.166C>T (p.Gln56Ter)
n.511C>T
c.120C>T (p.Asp40=)
c.115C>T (p.Gln39Ter)
c.217C>T (p.Gln73Ter)
c.127C>T (p.Gln43Ter)
c.118C>T (p.Gln40Ter)
dbSNP
3g.123352500G>CCA354222633ADCY5c.-108C>G (n.-108C>G)
c.181C>G (p.Gln61Glu)
c.1216C>G (p.Gln406Glu)
c.166C>G (p.Gln56Glu)
n.511C>G
c.120C>G (p.Asp40Glu)
c.115C>G (p.Gln39Glu)
c.217C>G (p.Gln73Glu)
c.127C>G (p.Gln43Glu)
c.118C>G (p.Gln40Glu)
3g.123352500G=CA1398358772ADCY5c.-108C= (n.-108C=)
c.181C= (p.Gln61=)
c.1216C= (p.Gln406=)
c.166C= (p.Gln56=)
n.511C=
c.120C= (p.Asp40=)
c.115C= (p.Gln39=)
c.217C= (p.Gln73=)
c.127C= (p.Gln43=)
c.118C= (p.Gln40=)
3g.123352500G>TCA354222634ADCY5c.-108C>A (n.-108C>A)
c.181C>A (p.Gln61Lys)
c.1216C>A (p.Gln406Lys)
c.166C>A (p.Gln56Lys)
n.511C>A
c.120C>A (p.Asp40Glu)
c.115C>A (p.Gln39Lys)
c.217C>A (p.Gln73Lys)
c.127C>A (p.Gln43Lys)
c.118C>A (p.Gln40Lys)
3g.123352501T>ACA354222635ADCY5c.-109A>T (n.-109A>T)
c.180A>T (p.Arg60Ser)
c.1215A>T (p.Arg405Ser)
c.165A>T (p.Arg55Ser)
n.510A>T
c.119A>T (p.Asp40Val)
c.114A>T (p.Arg38Ser)
c.216A>T (p.Arg72Ser)
c.126A>T (p.Arg42Ser)
c.117A>T (p.Arg39Ser)
3g.123352501T>CCA435296461ADCY5c.-109A>G (n.-109A>G)
c.180A>G (p.Arg60=)
c.1215A>G (p.Arg405=)
c.165A>G (p.Arg55=)
n.510A>G
c.119A>G (p.Asp40Gly)
c.114A>G (p.Arg38=)
c.216A>G (p.Arg72=)
c.126A>G (p.Arg42=)
c.117A>G (p.Arg39=)
3g.123352501T>GCA354222636ADCY5c.-109A>C (n.-109A>C)
c.180A>C (p.Arg60Ser)
c.1215A>C (p.Arg405Ser)
c.165A>C (p.Arg55Ser)
n.510A>C
c.119A>C (p.Asp40Ala)
c.114A>C (p.Arg38Ser)
c.216A>C (p.Arg72Ser)
c.126A>C (p.Arg42Ser)
c.117A>C (p.Arg39Ser)
3g.123352502C>ACA354222637ADCY5c.-110G>T (n.-110G>T)
c.179G>T (p.Arg60Ile)
c.1214G>T (p.Arg405Ile)
c.164G>T (p.Arg55Ile)
n.509G>T
c.118G>T (p.Asp40Tyr)
c.113G>T (p.Arg38Ile)
c.215G>T (p.Arg72Ile)
c.125G>T (p.Arg42Ile)
c.116G>T (p.Arg39Ile)
3g.123352502C>GCA354222639ADCY5c.-110G>C (n.-110G>C)
c.179G>C (p.Arg60Thr)
c.1214G>C (p.Arg405Thr)
c.164G>C (p.Arg55Thr)
n.509G>C
c.118G>C (p.Asp40His)
c.113G>C (p.Arg38Thr)
c.215G>C (p.Arg72Thr)
c.125G>C (p.Arg42Thr)
c.116G>C (p.Arg39Thr)
gnomAD v4
3g.123352502C>TCA354222638ADCY5c.-110G>A (n.-110G>A)
c.179G>A (p.Arg60Lys)
c.1214G>A (p.Arg405Lys)
c.164G>A (p.Arg55Lys)
n.509G>A
c.118G>A (p.Asp40Asn)
c.113G>A (p.Arg38Lys)
c.215G>A (p.Arg72Lys)
c.125G>A (p.Arg42Lys)
c.116G>A (p.Arg39Lys)
3g.123352503T>ACA354222640ADCY5c.-111A>T (n.-111A>T)
c.178A>T (p.Arg60Ter)
c.1213A>T (p.Arg405Ter)
c.163A>T (p.Arg55Ter)
n.508A>T
c.117A>T (p.Arg39Ser)
c.112A>T (p.Arg38Ter)
c.214A>T (p.Arg72Ter)
c.124A>T (p.Arg42Ter)
c.115A>T (p.Arg39Ter)
dbSNP
3g.123352503T>CCA354222641ADCY5c.-111A>G (n.-111A>G)
c.178A>G (p.Arg60Gly)
c.1213A>G (p.Arg405Gly)
c.163A>G (p.Arg55Gly)
n.508A>G
c.117A>G (p.Arg39=)
c.112A>G (p.Arg38Gly)
c.214A>G (p.Arg72Gly)
c.124A>G (p.Arg42Gly)
c.115A>G (p.Arg39Gly)
3g.123352503T>GCA435296462ADCY5c.-111A>C (n.-111A>C)
c.178A>C (p.Arg60=)
c.1213A>C (p.Arg405=)
c.163A>C (p.Arg55=)
n.508A>C
c.117A>C (p.Arg39Ser)
c.112A>C (p.Arg38=)
c.214A>C (p.Arg72=)
c.124A>C (p.Arg42=)
c.115A>C (p.Arg39=)
3g.123352503T=CA1398358773ADCY5c.-111A= (n.-111A=)
c.178A= (p.Arg60=)
c.1213A= (p.Arg405=)
c.163A= (p.Arg55=)
n.508A=
c.117A= (p.Arg39=)
c.112A= (p.Arg38=)
c.214A= (p.Arg72=)
c.124A= (p.Arg42=)
c.115A= (p.Arg39=)
3g.123352504C>ACA354222642ADCY5c.-112G>T (n.-112G>T)
c.177G>T (p.Gln59His)
c.1212G>T (p.Gln404His)
c.162G>T (p.Gln54His)
n.507G>T
c.116G>T (p.Arg39Ile)
c.111G>T (p.Gln37His)
c.213G>T (p.Gln71His)
c.123G>T (p.Gln41His)
c.114G>T (p.Gln38His)
3g.123352504C>GCA354222643ADCY5c.-112G>C (n.-112G>C)
c.177G>C (p.Gln59His)
c.1212G>C (p.Gln404His)
c.162G>C (p.Gln54His)
n.507G>C
c.116G>C (p.Arg39Thr)
c.111G>C (p.Gln37His)
c.213G>C (p.Gln71His)
c.123G>C (p.Gln41His)
c.114G>C (p.Gln38His)
3g.123352504C>TCA435296463ADCY5c.-112G>A (n.-112G>A)
c.177G>A (p.Gln59=)
c.1212G>A (p.Gln404=)
c.162G>A (p.Gln54=)
n.507G>A
c.116G>A (p.Arg39Lys)
c.111G>A (p.Gln37=)
c.213G>A (p.Gln71=)
c.123G>A (p.Gln41=)
c.114G>A (p.Gln38=)
3g.123352505T>ACA354222644ADCY5c.-113A>T (n.-113A>T)
c.176A>T (p.Gln59Leu)
c.1211A>T (p.Gln404Leu)
c.161A>T (p.Gln54Leu)
n.506A>T
c.115A>T (p.Arg39Ter)
c.110A>T (p.Gln37Leu)
c.212A>T (p.Gln71Leu)
c.122A>T (p.Gln41Leu)
c.113A>T (p.Gln38Leu)
3g.123352505T>CCA354222645ADCY5c.-113A>G (n.-113A>G)
c.176A>G (p.Gln59Arg)
c.1211A>G (p.Gln404Arg)
c.161A>G (p.Gln54Arg)
n.506A>G
c.115A>G (p.Arg39Gly)
c.110A>G (p.Gln37Arg)
c.212A>G (p.Gln71Arg)
c.122A>G (p.Gln41Arg)
c.113A>G (p.Gln38Arg)
3g.123352505T>GCA354222646ADCY5c.-113A>C (n.-113A>C)
c.176A>C (p.Gln59Pro)
c.1211A>C (p.Gln404Pro)
c.161A>C (p.Gln54Pro)
n.506A>C
c.115A>C (p.Arg39=)
c.110A>C (p.Gln37Pro)
c.212A>C (p.Gln71Pro)
c.122A>C (p.Gln41Pro)
c.113A>C (p.Gln38Pro)
3g.123352506G>ACA354222647ADCY5c.-114C>T (n.-114C>T)
c.175C>T (p.Gln59Ter)
c.1210C>T (p.Gln404Ter)
c.160C>T (p.Gln54Ter)
n.505C>T
c.114C>T (p.Pro38=)
c.109C>T (p.Gln37Ter)
c.211C>T (p.Gln71Ter)
c.121C>T (p.Gln41Ter)
c.112C>T (p.Gln38Ter)
dbSNP
3g.123352506G>CCA354222648ADCY5c.-114C>G (n.-114C>G)
c.175C>G (p.Gln59Glu)
c.1210C>G (p.Gln404Glu)
c.160C>G (p.Gln54Glu)
n.505C>G
c.114C>G (p.Pro38=)
c.109C>G (p.Gln37Glu)
c.211C>G (p.Gln71Glu)
c.121C>G (p.Gln41Glu)
c.112C>G (p.Gln38Glu)
3g.123352506G=CA1398358774ADCY5c.-114C= (n.-114C=)
c.175C= (p.Gln59=)
c.1210C= (p.Gln404=)
c.160C= (p.Gln54=)
n.505C=
c.114C= (p.Pro38=)
c.109C= (p.Gln37=)
c.211C= (p.Gln71=)
c.121C= (p.Gln41=)
c.112C= (p.Gln38=)
3g.123352506G>TCA354222649ADCY5c.-114C>A (n.-114C>A)
c.175C>A (p.Gln59Lys)
c.1210C>A (p.Gln404Lys)
c.160C>A (p.Gln54Lys)
n.505C>A
c.114C>A (p.Pro38=)
c.109C>A (p.Gln37Lys)
c.211C>A (p.Gln71Lys)
c.121C>A (p.Gln41Lys)
c.112C>A (p.Gln38Lys)
3g.123352507G>ACA2577527ADCY5c.-115C>T (n.-115C>T)
c.174C>T (p.Ser58=)
c.1209C>T (p.Ser403=)
c.159C>T (p.Ser53=)
n.504C>T
c.113C>T (p.Pro38Leu)
c.108C>T (p.Ser36=)
c.210C>T (p.Ser70=)
c.120C>T (p.Ser40=)
c.111C>T (p.Ser37=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123352507G>CCA435296464ADCY5c.-115C>G (n.-115C>G)
c.174C>G (p.Ser58=)
c.1209C>G (p.Ser403=)
c.159C>G (p.Ser53=)
n.504C>G
c.113C>G (p.Pro38Arg)
c.108C>G (p.Ser36=)
c.210C>G (p.Ser70=)
c.120C>G (p.Ser40=)
c.111C>G (p.Ser37=)
3g.123352507G=CA1398358775ADCY5c.-115C= (n.-115C=)
c.174C= (p.Ser58=)
c.1209C= (p.Ser403=)
c.159C= (p.Ser53=)
n.504C=
c.113C= (p.Pro38=)
c.108C= (p.Ser36=)
c.210C= (p.Ser70=)
c.120C= (p.Ser40=)
c.111C= (p.Ser37=)
3g.123352507G>TCA435296465ADCY5c.-115C>A (n.-115C>A)
c.174C>A (p.Ser58=)
c.1209C>A (p.Ser403=)
c.159C>A (p.Ser53=)
n.504C>A
c.113C>A (p.Pro38His)
c.108C>A (p.Ser36=)
c.210C>A (p.Ser70=)
c.120C>A (p.Ser40=)
c.111C>A (p.Ser37=)
gnomAD v4
3g.123352508G>ACA354222652ADCY5c.-116C>T (n.-116C>T)
c.173C>T (p.Ser58Phe)
c.1208C>T (p.Ser403Phe)
c.158C>T (p.Ser53Phe)
n.503C>T
c.112C>T (p.Pro38Ser)
c.107C>T (p.Ser36Phe)
c.209C>T (p.Ser70Phe)
c.119C>T (p.Ser40Phe)
c.110C>T (p.Ser37Phe)
3g.123352508G>CCA354222650ADCY5c.-116C>G (n.-116C>G)
c.173C>G (p.Ser58Cys)
c.1208C>G (p.Ser403Cys)
c.158C>G (p.Ser53Cys)
n.503C>G
c.112C>G (p.Pro38Ala)
c.107C>G (p.Ser36Cys)
c.209C>G (p.Ser70Cys)
c.119C>G (p.Ser40Cys)
c.110C>G (p.Ser37Cys)
3g.123352508G>TCA354222651ADCY5c.-116C>A (n.-116C>A)
c.173C>A (p.Ser58Tyr)
c.1208C>A (p.Ser403Tyr)
c.158C>A (p.Ser53Tyr)
n.503C>A
c.112C>A (p.Pro38Thr)
c.107C>A (p.Ser36Tyr)
c.209C>A (p.Ser70Tyr)
c.119C>A (p.Ser40Tyr)
c.110C>A (p.Ser37Tyr)
3g.123352509A>CCA354222653ADCY5c.-117T>G (n.-117T>G)
c.172T>G (p.Ser58Ala)
c.1207T>G (p.Ser403Ala)
c.157T>G (p.Ser53Ala)
n.502T>G
c.111T>G (p.Ser37=)
c.106T>G (p.Ser36Ala)
c.208T>G (p.Ser70Ala)
c.118T>G (p.Ser40Ala)
c.109T>G (p.Ser37Ala)
3g.123352509A>GCA354222654ADCY5c.-117T>C (n.-117T>C)
c.172T>C (p.Ser58Pro)
c.1207T>C (p.Ser403Pro)
c.157T>C (p.Ser53Pro)
n.502T>C
c.111T>C (p.Ser37=)
c.106T>C (p.Ser36Pro)
c.208T>C (p.Ser70Pro)
c.118T>C (p.Ser40Pro)
c.109T>C (p.Ser37Pro)
3g.123352509A>TCA354222655ADCY5c.-117T>A (n.-117T>A)
c.172T>A (p.Ser58Thr)
c.1207T>A (p.Ser403Thr)
c.157T>A (p.Ser53Thr)
n.502T>A
c.111T>A (p.Ser37=)
c.106T>A (p.Ser36Thr)
c.208T>A (p.Ser70Thr)
c.118T>A (p.Ser40Thr)
c.109T>A (p.Ser37Thr)
COSMIC
3g.123352510G>ACA435296466ADCY5c.-118C>T (n.-118C>T)
c.171C>T (p.Val57=)
c.1206C>T (p.Val402=)
c.156C>T (p.Val52=)
n.501C>T
c.110C>T (p.Ser37Phe)
c.105C>T (p.Val35=)
c.207C>T (p.Val69=)
c.117C>T (p.Val39=)
c.108C>T (p.Val36=)
gnomAD v4
3g.123352510G>CCA435296467ADCY5c.-118C>G (n.-118C>G)
c.171C>G (p.Val57=)
c.1206C>G (p.Val402=)
c.156C>G (p.Val52=)
n.501C>G
c.110C>G (p.Ser37Cys)
c.105C>G (p.Val35=)
c.207C>G (p.Val69=)
c.117C>G (p.Val39=)
c.108C>G (p.Val36=)
3g.123352510G>TCA435296468ADCY5c.-118C>A (n.-118C>A)
c.171C>A (p.Val57=)
c.1206C>A (p.Val402=)
c.156C>A (p.Val52=)
n.501C>A
c.110C>A (p.Ser37Tyr)
c.105C>A (p.Val35=)
c.207C>A (p.Val69=)
c.117C>A (p.Val39=)
c.108C>A (p.Val36=)
3g.123352511A>CCA354222656ADCY5c.-119T>G (n.-119T>G)
c.170T>G (p.Val57Gly)
c.1205T>G (p.Val402Gly)
c.155T>G (p.Val52Gly)
n.500T>G
c.109T>G (p.Ser37Ala)
c.104T>G (p.Val35Gly)
c.206T>G (p.Val69Gly)
c.116T>G (p.Val39Gly)
c.107T>G (p.Val36Gly)
3g.123352511A>GCA354222657ADCY5c.-119T>C (n.-119T>C)
c.170T>C (p.Val57Ala)
c.1205T>C (p.Val402Ala)
c.155T>C (p.Val52Ala)
n.500T>C
c.109T>C (p.Ser37Pro)
c.104T>C (p.Val35Ala)
c.206T>C (p.Val69Ala)
c.116T>C (p.Val39Ala)
c.107T>C (p.Val36Ala)
3g.123352511A>TCA354222658ADCY5c.-119T>A (n.-119T>A)
c.170T>A (p.Val57Asp)
c.1205T>A (p.Val402Asp)
c.155T>A (p.Val52Asp)
n.500T>A
c.109T>A (p.Ser37Thr)
c.104T>A (p.Val35Asp)
c.206T>A (p.Val69Asp)
c.116T>A (p.Val39Asp)
c.107T>A (p.Val36Asp)
3g.123352512C>ACA354222659ADCY5c.-120G>T (n.-120G>T)
c.169G>T (p.Val57Phe)
c.1204G>T (p.Val402Phe)
c.154G>T (p.Val52Phe)
n.499G>T
c.108G>T (p.Arg36Ser)
c.103G>T (p.Val35Phe)
c.205G>T (p.Val69Phe)
c.115G>T (p.Val39Phe)
c.106G>T (p.Val36Phe)
dbSNP gnomAD v4
3g.123352512C=CA1398358776ADCY5c.-120G= (n.-120G=)
c.169G= (p.Val57=)
c.1204G= (p.Val402=)
c.154G= (p.Val52=)
n.499G=
c.108G= (p.Arg36=)
c.103G= (p.Val35=)
c.205G= (p.Val69=)
c.115G= (p.Val39=)
c.106G= (p.Val36=)
3g.123352512C>GCA354222660ADCY5c.-120G>C (n.-120G>C)
c.169G>C (p.Val57Leu)
c.1204G>C (p.Val402Leu)
c.154G>C (p.Val52Leu)
n.499G>C
c.108G>C (p.Arg36Ser)
c.103G>C (p.Val35Leu)
c.205G>C (p.Val69Leu)
c.115G>C (p.Val39Leu)
c.106G>C (p.Val36Leu)
3g.123352512C>TCA354222661ADCY5c.-120G>A (n.-120G>A)
c.169G>A (p.Val57Ile)
c.1204G>A (p.Val402Ile)
c.154G>A (p.Val52Ile)
n.499G>A
c.108G>A (p.Arg36=)
c.103G>A (p.Val35Ile)
c.205G>A (p.Val69Ile)
c.115G>A (p.Val39Ile)
c.106G>A (p.Val36Ile)
dbSNP gnomAD v4
3g.123352513C>ACA354222662ADCY5c.-121G>T (n.-121G>T)
c.168G>T (p.Glu56Asp)
c.1203G>T (p.Glu401Asp)
c.153G>T (p.Glu51Asp)
n.498G>T
c.107G>T (p.Arg36Met)
c.102G>T (p.Glu34Asp)
c.204G>T (p.Glu68Asp)
c.114G>T (p.Glu38Asp)
c.105G>T (p.Glu35Asp)
3g.123352513C>GCA354222663ADCY5c.-121G>C (n.-121G>C)
c.168G>C (p.Glu56Asp)
c.1203G>C (p.Glu401Asp)
c.153G>C (p.Glu51Asp)
n.498G>C
c.107G>C (p.Arg36Thr)
c.102G>C (p.Glu34Asp)
c.204G>C (p.Glu68Asp)
c.114G>C (p.Glu38Asp)
c.105G>C (p.Glu35Asp)
3g.123352513C>TCA435296470ADCY5c.-121G>A (n.-121G>A)
c.168G>A (p.Glu56=)
c.1203G>A (p.Glu401=)
c.153G>A (p.Glu51=)
n.498G>A
c.107G>A (p.Arg36Lys)
c.102G>A (p.Glu34=)
c.204G>A (p.Glu68=)
c.114G>A (p.Glu38=)
c.105G>A (p.Glu35=)
3g.123352514T>ACA354222666ADCY5c.-122A>T (n.-122A>T)
c.167A>T (p.Glu56Val)
c.1202A>T (p.Glu401Val)
c.152A>T (p.Glu51Val)
n.497A>T
c.106A>T (p.Arg36Trp)
c.101A>T (p.Glu34Val)
c.203A>T (p.Glu68Val)
c.113A>T (p.Glu38Val)
c.104A>T (p.Glu35Val)
3g.123352514T>CCA354222665ADCY5c.-122A>G (n.-122A>G)
c.167A>G (p.Glu56Gly)
c.1202A>G (p.Glu401Gly)
c.152A>G (p.Glu51Gly)
n.497A>G
c.106A>G (p.Arg36Gly)
c.101A>G (p.Glu34Gly)
c.203A>G (p.Glu68Gly)
c.113A>G (p.Glu38Gly)
c.104A>G (p.Glu35Gly)
3g.123352514T>GCA354222664ADCY5c.-122A>C (n.-122A>C)
c.167A>C (p.Glu56Ala)
c.1202A>C (p.Glu401Ala)
c.152A>C (p.Glu51Ala)
n.497A>C
c.106A>C (p.Arg36=)
c.101A>C (p.Glu34Ala)
c.203A>C (p.Glu68Ala)
c.113A>C (p.Glu38Ala)
c.104A>C (p.Glu35Ala)
3g.123352515C>ACA354222667ADCY5c.-123G>T (n.-123G>T)
c.166G>T (p.Glu56Ter)
c.1201G>T (p.Glu401Ter)
c.151G>T (p.Glu51Ter)
n.496G>T
c.105G>T (p.Leu35=)
c.100G>T (p.Glu34Ter)
c.202G>T (p.Glu68Ter)
c.112G>T (p.Glu38Ter)
c.103G>T (p.Glu35Ter)
dbSNP
3g.123352515C=CA1398358777ADCY5c.-123G= (n.-123G=)
c.166G= (p.Glu56=)
c.1201G= (p.Glu401=)
c.151G= (p.Glu51=)
n.496G=
c.105G= (p.Leu35=)
c.100G= (p.Glu34=)
c.202G= (p.Glu68=)
c.112G= (p.Glu38=)
c.103G= (p.Glu35=)
3g.123352515C>GCA354222668ADCY5c.-123G>C (n.-123G>C)
c.166G>C (p.Glu56Gln)
c.1201G>C (p.Glu401Gln)
c.151G>C (p.Glu51Gln)
n.496G>C
c.105G>C (p.Leu35=)
c.100G>C (p.Glu34Gln)
c.202G>C (p.Glu68Gln)
c.112G>C (p.Glu38Gln)
c.103G>C (p.Glu35Gln)
3g.123352515C>TCA354222669ADCY5c.-123G>A (n.-123G>A)
c.166G>A (p.Glu56Lys)
c.1201G>A (p.Glu401Lys)
c.151G>A (p.Glu51Lys)
n.496G>A
c.105G>A (p.Leu35=)
c.100G>A (p.Glu34Lys)
c.202G>A (p.Glu68Lys)
c.112G>A (p.Glu38Lys)
c.103G>A (p.Glu35Lys)
3g.123352516A>CCA435296474ADCY5c.-124T>G (n.-124T>G)
c.165T>G (p.Ala55=)
c.1200T>G (p.Ala400=)
c.150T>G (p.Ala50=)
n.495T>G
c.104T>G (p.Leu35Arg)
c.99T>G (p.Ala33=)
c.201T>G (p.Ala67=)
c.111T>G (p.Ala37=)
c.102T>G (p.Ala34=)
3g.123352516A>GCA435296475ADCY5c.-124T>C (n.-124T>C)
c.165T>C (p.Ala55=)
c.1200T>C (p.Ala400=)
c.150T>C (p.Ala50=)
n.495T>C
c.104T>C (p.Leu35Pro)
c.99T>C (p.Ala33=)
c.201T>C (p.Ala67=)
c.111T>C (p.Ala37=)
c.102T>C (p.Ala34=)
gnomAD v4
3g.123352516A>TCA435296477ADCY5c.-124T>A (n.-124T>A)
c.165T>A (p.Ala55=)
c.1200T>A (p.Ala400=)
c.150T>A (p.Ala50=)
n.495T>A
c.104T>A (p.Leu35Gln)
c.99T>A (p.Ala33=)
c.201T>A (p.Ala67=)
c.111T>A (p.Ala37=)
c.102T>A (p.Ala34=)
3g.123352517G>ACA354222670ADCY5c.-125C>T (n.-125C>T)
c.164C>T (p.Ala55Val)
c.1199C>T (p.Ala400Val)
c.149C>T (p.Ala50Val)
n.494C>T
c.103C>T (p.Leu35=)
c.98C>T (p.Ala33Val)
c.200C>T (p.Ala67Val)
c.110C>T (p.Ala37Val)
c.101C>T (p.Ala34Val)
3g.123352517G>CCA354222671ADCY5c.-125C>G (n.-125C>G)
c.164C>G (p.Ala55Gly)
c.1199C>G (p.Ala400Gly)
c.149C>G (p.Ala50Gly)
n.494C>G
c.103C>G (p.Leu35Val)
c.98C>G (p.Ala33Gly)
c.200C>G (p.Ala67Gly)
c.110C>G (p.Ala37Gly)
c.101C>G (p.Ala34Gly)
3g.123352517G>TCA354222672ADCY5c.-125C>A (n.-125C>A)
c.164C>A (p.Ala55Asp)
c.1199C>A (p.Ala400Asp)
c.149C>A (p.Ala50Asp)
n.494C>A
c.103C>A (p.Leu35Met)
c.98C>A (p.Ala33Asp)
c.200C>A (p.Ala67Asp)
c.110C>A (p.Ala37Asp)
c.101C>A (p.Ala34Asp)
3g.123352518C>ACA354222673ADCY5c.-126G>T (n.-126G>T)
c.163G>T (p.Ala55Ser)
c.1198G>T (p.Ala400Ser)
c.148G>T (p.Ala50Ser)
n.493G>T
c.102G>T (p.Arg34=)
c.97G>T (p.Ala33Ser)
c.199G>T (p.Ala67Ser)
c.109G>T (p.Ala37Ser)
c.100G>T (p.Ala34Ser)
dbSNP
3g.123352518C>GCA354222674ADCY5c.-126G>C (n.-126G>C)
c.163G>C (p.Ala55Pro)
c.1198G>C (p.Ala400Pro)
c.148G>C (p.Ala50Pro)
n.493G>C
c.102G>C (p.Arg34=)
c.97G>C (p.Ala33Pro)
c.199G>C (p.Ala67Pro)
c.109G>C (p.Ala37Pro)
c.100G>C (p.Ala34Pro)
3g.123352518C>TCA354222675ADCY5c.-126G>A (n.-126G>A)
c.163G>A (p.Ala55Thr)
c.1198G>A (p.Ala400Thr)
c.148G>A (p.Ala50Thr)
n.493G>A
c.102G>A (p.Arg34=)
c.97G>A (p.Ala33Thr)
c.199G>A (p.Ala67Thr)
c.109G>A (p.Ala37Thr)
c.100G>A (p.Ala34Thr)
3g.123352519C>ACA435296485ADCY5c.-127G>T (n.-127G>T)
c.162G>T (p.Pro54=)
c.1197G>T (p.Pro399=)
c.147G>T (p.Pro49=)
n.492G>T
c.101G>T (p.Arg34Leu)
c.96G>T (p.Pro32=)
c.198G>T (p.Pro66=)
c.108G>T (p.Pro36=)
c.99G>T (p.Pro33=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123352519C=CA1398358778ADCY5c.-127G= (n.-127G=)
c.162G= (p.Pro54=)
c.1197G= (p.Pro399=)
c.147G= (p.Pro49=)
n.492G=
c.101G= (p.Arg34=)
c.96G= (p.Pro32=)
c.198G= (p.Pro66=)
c.108G= (p.Pro36=)
c.99G= (p.Pro33=)
3g.123352519C>GCA435296483ADCY5c.-127G>C (n.-127G>C)
c.162G>C (p.Pro54=)
c.1197G>C (p.Pro399=)
c.147G>C (p.Pro49=)
n.492G>C
c.101G>C (p.Arg34Pro)
c.96G>C (p.Pro32=)
c.198G>C (p.Pro66=)
c.108G>C (p.Pro36=)
c.99G>C (p.Pro33=)
3g.123352519C>TCA2577528ADCY5c.-127G>A (n.-127G>A)
c.162G>A (p.Pro54=)
c.1197G>A (p.Pro399=)
c.147G>A (p.Pro49=)
n.492G>A
c.101G>A (p.Arg34Gln)
c.96G>A (p.Pro32=)
c.198G>A (p.Pro66=)
c.108G>A (p.Pro36=)
c.99G>A (p.Pro33=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123352520G>ACA354222676ADCY5c.-128C>T (n.-128C>T)
c.161C>T (p.Pro54Leu)
c.1196C>T (p.Pro399Leu)
c.146C>T (p.Pro49Leu)
n.491C>T
c.100C>T (p.Arg34Trp)
c.95C>T (p.Pro32Leu)
c.197C>T (p.Pro66Leu)
c.107C>T (p.Pro36Leu)
c.98C>T (p.Pro33Leu)
dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.123352520G>CCA354222677ADCY5c.-128C>G (n.-128C>G)
c.161C>G (p.Pro54Arg)
c.1196C>G (p.Pro399Arg)
c.146C>G (p.Pro49Arg)
n.491C>G
c.100C>G (p.Arg34Gly)
c.95C>G (p.Pro32Arg)
c.197C>G (p.Pro66Arg)
c.107C>G (p.Pro36Arg)
c.98C>G (p.Pro33Arg)
3g.123352520G=CA1398358779ADCY5c.-128C= (n.-128C=)
c.161C= (p.Pro54=)
c.1196C= (p.Pro399=)
c.146C= (p.Pro49=)
n.491C=
c.100C= (p.Arg34=)
c.95C= (p.Pro32=)
c.197C= (p.Pro66=)
c.107C= (p.Pro36=)
c.98C= (p.Pro33=)
3g.123352520G>TCA354222678ADCY5c.-128C>A (n.-128C>A)
c.161C>A (p.Pro54Gln)
c.1196C>A (p.Pro399Gln)
c.146C>A (p.Pro49Gln)
n.491C>A
c.100C>A (p.Arg34=)
c.95C>A (p.Pro32Gln)
c.197C>A (p.Pro66Gln)
c.107C>A (p.Pro36Gln)
c.98C>A (p.Pro33Gln)
3g.123352521G>ACA354222680ADCY5c.-129C>T (n.-129C>T)
c.160C>T (p.Pro54Ser)
c.1195C>T (p.Pro399Ser)
c.145C>T (p.Pro49Ser)
n.490C>T
c.99C>T (p.Ile33=)
c.94C>T (p.Pro32Ser)
c.196C>T (p.Pro66Ser)
c.106C>T (p.Pro36Ser)
c.97C>T (p.Pro33Ser)
3g.123352521G>CCA354222681ADCY5c.-129C>G (n.-129C>G)
c.160C>G (p.Pro54Ala)
c.1195C>G (p.Pro399Ala)
c.145C>G (p.Pro49Ala)
n.490C>G
c.99C>G (p.Ile33Met)
c.94C>G (p.Pro32Ala)
c.196C>G (p.Pro66Ala)
c.106C>G (p.Pro36Ala)
c.97C>G (p.Pro33Ala)
3g.123352521G>TCA354222679ADCY5c.-129C>A (n.-129C>A)
c.160C>A (p.Pro54Thr)
c.1195C>A (p.Pro399Thr)
c.145C>A (p.Pro49Thr)
n.490C>A
c.99C>A (p.Ile33=)
c.94C>A (p.Pro32Thr)
c.196C>A (p.Pro66Thr)
c.106C>A (p.Pro36Thr)
c.97C>A (p.Pro33Thr)
3g.123352522A>CCA354222682ADCY5c.-130T>G (n.-130T>G)
c.159T>G (p.Tyr53Ter)
c.1194T>G (p.Tyr398Ter)
c.144T>G (p.Tyr48Ter)
n.489T>G
c.98T>G (p.Ile33Ser)
c.93T>G (p.Tyr31Ter)
c.195T>G (p.Tyr65Ter)
c.105T>G (p.Tyr35Ter)
c.96T>G (p.Tyr32Ter)
gnomAD v4
3g.123352522A>GCA435296492ADCY5c.-130T>C (n.-130T>C)
c.159T>C (p.Tyr53=)
c.1194T>C (p.Tyr398=)
c.144T>C (p.Tyr48=)
n.489T>C
c.98T>C (p.Ile33Thr)
c.93T>C (p.Tyr31=)
c.195T>C (p.Tyr65=)
c.105T>C (p.Tyr35=)
c.96T>C (p.Tyr32=)
3g.123352522A>TCA354222683ADCY5c.-130T>A (n.-130T>A)
c.159T>A (p.Tyr53Ter)
c.1194T>A (p.Tyr398Ter)
c.144T>A (p.Tyr48Ter)
n.489T>A
c.98T>A (p.Ile33Asn)
c.93T>A (p.Tyr31Ter)
c.195T>A (p.Tyr65Ter)
c.105T>A (p.Tyr35Ter)
c.96T>A (p.Tyr32Ter)
3g.123352523T>ACA354222684ADCY5c.-131A>T (n.-131A>T)
c.158A>T (p.Tyr53Phe)
c.1193A>T (p.Tyr398Phe)
c.143A>T (p.Tyr48Phe)
n.488A>T
c.97A>T (p.Ile33Phe)
c.92A>T (p.Tyr31Phe)
c.194A>T (p.Tyr65Phe)
c.104A>T (p.Tyr35Phe)
c.95A>T (p.Tyr32Phe)
gnomAD v4
3g.123352523T>CCA354222685ADCY5c.-131A>G (n.-131A>G)
c.158A>G (p.Tyr53Cys)
c.1193A>G (p.Tyr398Cys)
c.143A>G (p.Tyr48Cys)
n.488A>G
c.97A>G (p.Ile33Val)
c.92A>G (p.Tyr31Cys)
c.194A>G (p.Tyr65Cys)
c.104A>G (p.Tyr35Cys)
c.95A>G (p.Tyr32Cys)
3g.123352523T>GCA354222686ADCY5c.-131A>C (n.-131A>C)
c.158A>C (p.Tyr53Ser)
c.1193A>C (p.Tyr398Ser)
c.143A>C (p.Tyr48Ser)
n.488A>C
c.97A>C (p.Ile33Leu)
c.92A>C (p.Tyr31Ser)
c.194A>C (p.Tyr65Ser)
c.104A>C (p.Tyr35Ser)
c.95A>C (p.Tyr32Ser)
dbSNP gnomAD v4
3g.123352524A>CCA354222687ADCY5c.-132T>G (n.-132T>G)
c.157T>G (p.Tyr53Asp)
c.1192T>G (p.Tyr398Asp)
c.142T>G (p.Tyr48Asp)
n.487T>G
c.96T>G (p.Thr32=)
c.91T>G (p.Tyr31Asp)
c.193T>G (p.Tyr65Asp)
c.103T>G (p.Tyr35Asp)
c.94T>G (p.Tyr32Asp)
3g.123352524A>GCA354222688ADCY5c.-132T>C (n.-132T>C)
c.157T>C (p.Tyr53His)
c.1192T>C (p.Tyr398His)
c.142T>C (p.Tyr48His)
n.487T>C
c.96T>C (p.Thr32=)
c.91T>C (p.Tyr31His)
c.193T>C (p.Tyr65His)
c.103T>C (p.Tyr35His)
c.94T>C (p.Tyr32His)
3g.123352524A>TCA354222689ADCY5c.-132T>A (n.-132T>A)
c.157T>A (p.Tyr53Asn)
c.1192T>A (p.Tyr398Asn)
c.142T>A (p.Tyr48Asn)
n.487T>A
c.96T>A (p.Thr32=)
c.91T>A (p.Tyr31Asn)
c.193T>A (p.Tyr65Asn)
c.103T>A (p.Tyr35Asn)
c.94T>A (p.Tyr32Asn)
3g.123352525G>ACA435296499ADCY5c.-133C>T (n.-133C>T)
c.156C>T (p.His52=)
c.1191C>T (p.His397=)
c.141C>T (p.His47=)
n.486C>T
c.95C>T (p.Thr32Ile)
c.90C>T (p.His30=)
c.192C>T (p.His64=)
c.102C>T (p.His34=)
c.93C>T (p.His31=)
3g.123352525G>CCA354222690ADCY5c.-133C>G (n.-133C>G)
c.156C>G (p.His52Gln)
c.1191C>G (p.His397Gln)
c.141C>G (p.His47Gln)
n.486C>G
c.95C>G (p.Thr32Ser)
c.90C>G (p.His30Gln)
c.192C>G (p.His64Gln)
c.102C>G (p.His34Gln)
c.93C>G (p.His31Gln)
3g.123352525G>TCA354222691ADCY5c.-133C>A (n.-133C>A)
c.156C>A (p.His52Gln)
c.1191C>A (p.His397Gln)
c.141C>A (p.His47Gln)
n.486C>A
c.95C>A (p.Thr32Asn)
c.90C>A (p.His30Gln)
c.192C>A (p.His64Gln)
c.102C>A (p.His34Gln)
c.93C>A (p.His31Gln)
3g.123352526T>ACA354222692ADCY5c.-134A>T (n.-134A>T)
c.155A>T (p.His52Leu)
c.1190A>T (p.His397Leu)
c.140A>T (p.His47Leu)
n.485A>T
c.94A>T (p.Thr32Ser)
c.89A>T (p.His30Leu)
c.191A>T (p.His64Leu)
c.101A>T (p.His34Leu)
c.92A>T (p.His31Leu)
3g.123352526T>CCA354222693ADCY5c.-134A>G (n.-134A>G)
c.155A>G (p.His52Arg)
c.1190A>G (p.His397Arg)
c.140A>G (p.His47Arg)
n.485A>G
c.94A>G (p.Thr32Ala)
c.89A>G (p.His30Arg)
c.191A>G (p.His64Arg)
c.101A>G (p.His34Arg)
c.92A>G (p.His31Arg)
3g.123352526T>GCA354222694ADCY5c.-134A>C (n.-134A>C)
c.155A>C (p.His52Pro)
c.1190A>C (p.His397Pro)
c.140A>C (p.His47Pro)
n.485A>C
c.94A>C (p.Thr32Pro)
c.89A>C (p.His30Pro)
c.191A>C (p.His64Pro)
c.101A>C (p.His34Pro)
c.92A>C (p.His31Pro)
3g.123352527G>ACA354222695ADCY5c.-135C>T (n.-135C>T)
c.154C>T (p.His52Tyr)
c.1189C>T (p.His397Tyr)
c.139C>T (p.His47Tyr)
n.484C>T
c.93C>T (p.Pro31=)
c.88C>T (p.His30Tyr)
c.190C>T (p.His64Tyr)
c.100C>T (p.His34Tyr)
c.91C>T (p.His31Tyr)
3g.123352527G>CCA354222697ADCY5c.-135C>G (n.-135C>G)
c.154C>G (p.His52Asp)
c.1189C>G (p.His397Asp)
c.139C>G (p.His47Asp)
n.484C>G
c.93C>G (p.Pro31=)
c.88C>G (p.His30Asp)
c.190C>G (p.His64Asp)
c.100C>G (p.His34Asp)
c.91C>G (p.His31Asp)
3g.123352527G>TCA354222696ADCY5c.-135C>A (n.-135C>A)
c.154C>A (p.His52Asn)
c.1189C>A (p.His397Asn)
c.139C>A (p.His47Asn)
n.484C>A
c.93C>A (p.Pro31=)
c.88C>A (p.His30Asn)
c.190C>A (p.His64Asn)
c.100C>A (p.His34Asn)
c.91C>A (p.His31Asn)
3g.123352528G>ACA435296506ADCY5c.-136C>T (n.-136C>T)
c.153C>T (p.Thr51=)
c.1188C>T (p.Thr396=)
c.138C>T (p.Thr46=)
n.483C>T
c.92C>T (p.Pro31Leu)
c.87C>T (p.Thr29=)
c.189C>T (p.Thr63=)
c.99C>T (p.Thr33=)
c.90C>T (p.Thr30=)
gnomAD v4
3g.123352528G>CCA435296508ADCY5c.-136C>G (n.-136C>G)
c.153C>G (p.Thr51=)
c.1188C>G (p.Thr396=)
c.138C>G (p.Thr46=)
n.483C>G
c.92C>G (p.Pro31Arg)
c.87C>G (p.Thr29=)
c.189C>G (p.Thr63=)
c.99C>G (p.Thr33=)
c.90C>G (p.Thr30=)
3g.123352528G>TCA435296509ADCY5c.-136C>A (n.-136C>A)
c.153C>A (p.Thr51=)
c.1188C>A (p.Thr396=)
c.138C>A (p.Thr46=)
n.483C>A
c.92C>A (p.Pro31His)
c.87C>A (p.Thr29=)
c.189C>A (p.Thr63=)
c.99C>A (p.Thr33=)
c.90C>A (p.Thr30=)
3g.123352529G>ACA354222698ADCY5c.-137C>T (n.-137C>T)
c.152C>T (p.Thr51Ile)
c.1187C>T (p.Thr396Ile)
c.137C>T (p.Thr46Ile)
n.482C>T
c.91C>T (p.Pro31Ser)
c.86C>T (p.Thr29Ile)
c.188C>T (p.Thr63Ile)
c.98C>T (p.Thr33Ile)
c.89C>T (p.Thr30Ile)
3g.123352529G>CCA2577529ADCY5c.-137C>G (n.-137C>G)
c.152C>G (p.Thr51Ser)
c.1187C>G (p.Thr396Ser)
c.137C>G (p.Thr46Ser)
n.482C>G
c.91C>G (p.Pro31Ala)
c.86C>G (p.Thr29Ser)
c.188C>G (p.Thr63Ser)
c.98C>G (p.Thr33Ser)
c.89C>G (p.Thr30Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123352529G=CA1398358780ADCY5c.-137C= (n.-137C=)
c.152C= (p.Thr51=)
c.1187C= (p.Thr396=)
c.137C= (p.Thr46=)
n.482C=
c.91C= (p.Pro31=)
c.86C= (p.Thr29=)
c.188C= (p.Thr63=)
c.98C= (p.Thr33=)
c.89C= (p.Thr30=)
3g.123352529G>TCA354222699ADCY5c.-137C>A (n.-137C>A)
c.152C>A (p.Thr51Asn)
c.1187C>A (p.Thr396Asn)
c.137C>A (p.Thr46Asn)
n.482C>A
c.91C>A (p.Pro31Thr)
c.86C>A (p.Thr29Asn)
c.188C>A (p.Thr63Asn)
c.98C>A (p.Thr33Asn)
c.89C>A (p.Thr30Asn)
3g.123352530T>ACA354222700ADCY5c.-138A>T (n.-138A>T)
c.151A>T (p.Thr51Ser)
c.1186A>T (p.Thr396Ser)
c.136A>T (p.Thr46Ser)
n.481A>T
c.90A>T (p.Ala30=)
c.85A>T (p.Thr29Ser)
c.187A>T (p.Thr63Ser)
c.97A>T (p.Thr33Ser)
c.88A>T (p.Thr30Ser)
dbSNP gnomAD v2 gnomAD v4
3g.123352530T>CCA354222701ADCY5c.-138A>G (n.-138A>G)
c.151A>G (p.Thr51Ala)
c.1186A>G (p.Thr396Ala)
c.136A>G (p.Thr46Ala)
n.481A>G
c.90A>G (p.Ala30=)
c.85A>G (p.Thr29Ala)
c.187A>G (p.Thr63Ala)
c.97A>G (p.Thr33Ala)
c.88A>G (p.Thr30Ala)
3g.123352530T>GCA354222702ADCY5c.-138A>C (n.-138A>C)
c.151A>C (p.Thr51Pro)
c.1186A>C (p.Thr396Pro)
c.136A>C (p.Thr46Pro)
n.481A>C
c.90A>C (p.Ala30=)
c.85A>C (p.Thr29Pro)
c.187A>C (p.Thr63Pro)
c.97A>C (p.Thr33Pro)
c.88A>C (p.Thr30Pro)
3g.123352530T=CA1398358781ADCY5c.-138A= (n.-138A=)
c.151A= (p.Thr51=)
c.1186A= (p.Thr396=)
c.136A= (p.Thr46=)
n.481A=
c.90A= (p.Ala30=)
c.85A= (p.Thr29=)
c.187A= (p.Thr63=)
c.97A= (p.Thr33=)
c.88A= (p.Thr30=)
3g.123352531G>ACA435296515ADCY5c.-139C>T (n.-139C>T)
c.150C>T (p.Cys50=)
c.1185C>T (p.Cys395=)
c.135C>T (p.Cys45=)
n.480C>T
c.89C>T (p.Ala30Val)
c.84C>T (p.Cys28=)
c.186C>T (p.Cys62=)
c.96C>T (p.Cys32=)
c.87C>T (p.Cys29=)
3g.123352531G>CCA354222703ADCY5c.-139C>G (n.-139C>G)
c.150C>G (p.Cys50Trp)
c.1185C>G (p.Cys395Trp)
c.135C>G (p.Cys45Trp)
n.480C>G
c.89C>G (p.Ala30Gly)
c.84C>G (p.Cys28Trp)
c.186C>G (p.Cys62Trp)
c.96C>G (p.Cys32Trp)
c.87C>G (p.Cys29Trp)
3g.123352531G=CA1398358782ADCY5c.-139C= (n.-139C=)
c.150C= (p.Cys50=)
c.1185C= (p.Cys395=)
c.135C= (p.Cys45=)
n.480C=
c.89C= (p.Ala30=)
c.84C= (p.Cys28=)
c.186C= (p.Cys62=)
c.96C= (p.Cys32=)
c.87C= (p.Cys29=)
3g.123352531G>TCA354222704ADCY5c.-139C>A (n.-139C>A)
c.150C>A (p.Cys50Ter)
c.1185C>A (p.Cys395Ter)
c.135C>A (p.Cys45Ter)
n.480C>A
c.89C>A (p.Ala30Glu)
c.84C>A (p.Cys28Ter)
c.186C>A (p.Cys62Ter)
c.96C>A (p.Cys32Ter)
c.87C>A (p.Cys29Ter)
dbSNP gnomAD v4
3g.123352532C>ACA354222705ADCY5c.-140G>T (n.-140G>T)
c.149G>T (p.Cys50Phe)
c.1184G>T (p.Cys395Phe)
c.134G>T (p.Cys45Phe)
n.479G>T
c.88G>T (p.Ala30Ser)
c.83G>T (p.Cys28Phe)
c.185G>T (p.Cys62Phe)
c.95G>T (p.Cys32Phe)
c.86G>T (p.Cys29Phe)
3g.123352532C>GCA354222706ADCY5c.-140G>C (n.-140G>C)
c.149G>C (p.Cys50Ser)
c.1184G>C (p.Cys395Ser)
c.134G>C (p.Cys45Ser)
n.479G>C
c.88G>C (p.Ala30Pro)
c.83G>C (p.Cys28Ser)
c.185G>C (p.Cys62Ser)
c.95G>C (p.Cys32Ser)
c.86G>C (p.Cys29Ser)
3g.123352532C>TCA354222707ADCY5c.-140G>A (n.-140G>A)
c.149G>A (p.Cys50Tyr)
c.1184G>A (p.Cys395Tyr)
c.134G>A (p.Cys45Tyr)
n.479G>A
c.88G>A (p.Ala30Thr)
c.83G>A (p.Cys28Tyr)
c.185G>A (p.Cys62Tyr)
c.95G>A (p.Cys32Tyr)
c.86G>A (p.Cys29Tyr)
ClinVar
3g.123352533A>CCA354222709ADCY5c.-141T>G (n.-141T>G)
c.148T>G (p.Cys50Gly)
c.1183T>G (p.Cys395Gly)
c.133T>G (p.Cys45Gly)
n.478T>G
c.87T>G (p.Ser29=)
c.82T>G (p.Cys28Gly)
c.184T>G (p.Cys62Gly)
c.94T>G (p.Cys32Gly)
c.85T>G (p.Cys29Gly)
3g.123352533A>GCA354222710ADCY5c.-141T>C (n.-141T>C)
c.148T>C (p.Cys50Arg)
c.1183T>C (p.Cys395Arg)
c.133T>C (p.Cys45Arg)
n.478T>C
c.87T>C (p.Ser29=)
c.82T>C (p.Cys28Arg)
c.184T>C (p.Cys62Arg)
c.94T>C (p.Cys32Arg)
c.85T>C (p.Cys29Arg)
3g.123352533A>TCA354222708ADCY5c.-141T>A (n.-141T>A)
c.148T>A (p.Cys50Ser)
c.1183T>A (p.Cys395Ser)
c.133T>A (p.Cys45Ser)
n.478T>A
c.87T>A (p.Ser29=)
c.82T>A (p.Cys28Ser)
c.184T>A (p.Cys62Ser)
c.94T>A (p.Cys32Ser)
c.85T>A (p.Cys29Ser)
3g.123352534G>ACA435296523ADCY5c.-142C>T (n.-142C>T)
c.147C>T (p.Val49=)
c.1182C>T (p.Val394=)
c.132C>T (p.Val44=)
n.477C>T
c.86C>T (p.Ser29Phe)
c.81C>T (p.Val27=)
c.183C>T (p.Val61=)
c.93C>T (p.Val31=)
c.84C>T (p.Val28=)
3g.123352534G>CCA435296524ADCY5c.-142C>G (n.-142C>G)
c.147C>G (p.Val49=)
c.1182C>G (p.Val394=)
c.132C>G (p.Val44=)
n.477C>G
c.86C>G (p.Ser29Cys)
c.81C>G (p.Val27=)
c.183C>G (p.Val61=)
c.93C>G (p.Val31=)
c.84C>G (p.Val28=)
3g.123352534G>TCA435296525ADCY5c.-142C>A (n.-142C>A)
c.147C>A (p.Val49=)
c.1182C>A (p.Val394=)
c.132C>A (p.Val44=)
n.477C>A
c.86C>A (p.Ser29Tyr)
c.81C>A (p.Val27=)
c.183C>A (p.Val61=)
c.93C>A (p.Val31=)
c.84C>A (p.Val28=)
3g.123352535A>CCA354222713ADCY5c.-143T>G (n.-143T>G)
c.146T>G (p.Val49Gly)
c.1181T>G (p.Val394Gly)
c.131T>G (p.Val44Gly)
n.476T>G
c.85T>G (p.Ser29Ala)
c.80T>G (p.Val27Gly)
c.182T>G (p.Val61Gly)
c.92T>G (p.Val31Gly)
c.83T>G (p.Val28Gly)
3g.123352535A>GCA354222711ADCY5c.-143T>C (n.-143T>C)
c.146T>C (p.Val49Ala)
c.1181T>C (p.Val394Ala)
c.131T>C (p.Val44Ala)
n.476T>C
c.85T>C (p.Ser29Pro)
c.80T>C (p.Val27Ala)
c.182T>C (p.Val61Ala)
c.92T>C (p.Val31Ala)
c.83T>C (p.Val28Ala)
3g.123352535A>TCA354222712ADCY5c.-143T>A (n.-143T>A)
c.146T>A (p.Val49Asp)
c.1181T>A (p.Val394Asp)
c.131T>A (p.Val44Asp)
n.476T>A
c.85T>A (p.Ser29Thr)
c.80T>A (p.Val27Asp)
c.182T>A (p.Val61Asp)
c.92T>A (p.Val31Asp)
c.83T>A (p.Val28Asp)
3g.123352536C>ACA354222714ADCY5c.-144G>T (n.-144G>T)
c.145G>T (p.Val49Phe)
c.1180G>T (p.Val394Phe)
c.130G>T (p.Val44Phe)
n.475G>T
c.84G>T (p.Val28=)
c.79G>T (p.Val27Phe)
c.181G>T (p.Val61Phe)
c.91G>T (p.Val31Phe)
c.82G>T (p.Val28Phe)
3g.123352536C=CA1398358783ADCY5c.-144G= (n.-144G=)
c.145G= (p.Val49=)
c.1180G= (p.Val394=)
c.130G= (p.Val44=)
n.475G=
c.84G= (p.Val28=)
c.79G= (p.Val27=)
c.181G= (p.Val61=)
c.91G= (p.Val31=)
c.82G= (p.Val28=)
3g.123352536C>GCA354222715ADCY5c.-144G>C (n.-144G>C)
c.145G>C (p.Val49Leu)
c.1180G>C (p.Val394Leu)
c.130G>C (p.Val44Leu)
n.475G>C
c.84G>C (p.Val28=)
c.79G>C (p.Val27Leu)
c.181G>C (p.Val61Leu)
c.91G>C (p.Val31Leu)
c.82G>C (p.Val28Leu)
3g.123352536C>TCA2577530ADCY5c.-144G>A (n.-144G>A)
c.145G>A (p.Val49Ile)
c.1180G>A (p.Val394Ile)
c.130G>A (p.Val44Ile)
n.475G>A
c.84G>A (p.Val28=)
c.79G>A (p.Val27Ile)
c.181G>A (p.Val61Ile)
c.91G>A (p.Val31Ile)
c.82G>A (p.Val28Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123352536_123352537insGTCTCA1398358784ADCY5c.-145_-144insAGAC (n.-145_-144insAGAC)
c.144_145insAGAC (p.Val49ArgfsTer9)
c.1179_1180insAGAC (p.Val394ArgfsTer9)
c.129_130insAGAC (p.Val44ArgfsTer9)
n.474_475insAGAC
c.83_84insAGAC (p.Ser29AspfsTer?)
c.78_79insAGAC (p.Val27ArgfsTer9)
c.180_181insAGAC (p.Val61ArgfsTer9)
c.90_91insAGAC (p.Val31ArgfsTer9)
c.81_82insAGAC (p.Val28ArgfsTer9)
dbSNP
3g.123352537A>CCA435296532ADCY5c.-145T>G (n.-145T>G)
c.144T>G (p.Gly48=)
c.1179T>G (p.Gly393=)
c.129T>G (p.Gly43=)
n.474T>G
c.83T>G (p.Val28Gly)
c.78T>G (p.Gly26=)
c.180T>G (p.Gly60=)
c.90T>G (p.Gly30=)
c.81T>G (p.Gly27=)
3g.123352537A>GCA435296533ADCY5c.-145T>C (n.-145T>C)
c.144T>C (p.Gly48=)
c.1179T>C (p.Gly393=)
c.129T>C (p.Gly43=)
n.474T>C
c.83T>C (p.Val28Ala)
c.78T>C (p.Gly26=)
c.180T>C (p.Gly60=)
c.90T>C (p.Gly30=)
c.81T>C (p.Gly27=)
3g.123352537A>TCA435296535ADCY5c.-145T>A (n.-145T>A)
c.144T>A (p.Gly48=)
c.1179T>A (p.Gly393=)
c.129T>A (p.Gly43=)
n.474T>A
c.83T>A (p.Val28Glu)
c.78T>A (p.Gly26=)
c.180T>A (p.Gly60=)
c.90T>A (p.Gly30=)
c.81T>A (p.Gly27=)
3g.123352538C>ACA354222718ADCY5c.-146G>T (n.-146G>T)
c.143G>T (p.Gly48Val)
c.1178G>T (p.Gly393Val)
c.128G>T (p.Gly43Val)
n.473G>T
c.82G>T (p.Val28Leu)
c.77G>T (p.Gly26Val)
c.179G>T (p.Gly60Val)
c.89G>T (p.Gly30Val)
c.80G>T (p.Gly27Val)
3g.123352538C>GCA354222717ADCY5c.-146G>C (n.-146G>C)
c.143G>C (p.Gly48Ala)
c.1178G>C (p.Gly393Ala)
c.128G>C (p.Gly43Ala)
n.473G>C
c.82G>C (p.Val28Leu)
c.77G>C (p.Gly26Ala)
c.179G>C (p.Gly60Ala)
c.89G>C (p.Gly30Ala)
c.80G>C (p.Gly27Ala)
3g.123352538C>TCA354222716ADCY5c.-146G>A (n.-146G>A)
c.143G>A (p.Gly48Asp)
c.1178G>A (p.Gly393Asp)
c.128G>A (p.Gly43Asp)
n.473G>A
c.82G>A (p.Val28Met)
c.77G>A (p.Gly26Asp)
c.179G>A (p.Gly60Asp)
c.89G>A (p.Gly30Asp)
c.80G>A (p.Gly27Asp)
3g.123352539C>ACA354222719ADCY5c.-147G>T (n.-147G>T)
c.142G>T (p.Gly48Cys)
c.1177G>T (p.Gly393Cys)
c.127G>T (p.Gly43Cys)
n.472G>T
c.81G>T (p.Trp27Cys)
c.76G>T (p.Gly26Cys)
c.178G>T (p.Gly60Cys)
c.88G>T (p.Gly30Cys)
c.79G>T (p.Gly27Cys)
3g.123352539C>GCA354222720ADCY5c.-147G>C (n.-147G>C)
c.142G>C (p.Gly48Arg)
c.1177G>C (p.Gly393Arg)
c.127G>C (p.Gly43Arg)
n.472G>C
c.81G>C (p.Trp27Cys)
c.76G>C (p.Gly26Arg)
c.178G>C (p.Gly60Arg)
c.88G>C (p.Gly30Arg)
c.79G>C (p.Gly27Arg)
3g.123352539C>TCA354222721ADCY5c.-147G>A (n.-147G>A)
c.142G>A (p.Gly48Ser)
c.1177G>A (p.Gly393Ser)
c.127G>A (p.Gly43Ser)
n.472G>A
c.81G>A (p.Trp27Ter)
c.76G>A (p.Gly26Ser)
c.178G>A (p.Gly60Ser)
c.88G>A (p.Gly30Ser)
c.79G>A (p.Gly27Ser)
gnomAD v4
3g.123352540C>ACA435296542ADCY5c.-148G>T (n.-148G>T)
c.141G>T (p.Val47=)
c.1176G>T (p.Val392=)
c.126G>T (p.Val42=)
n.471G>T
c.80G>T (p.Trp27Leu)
c.75G>T (p.Val25=)
c.177G>T (p.Val59=)
c.87G>T (p.Val29=)
c.78G>T (p.Val26=)
3g.123352540C>GCA435296543ADCY5c.-148G>C (n.-148G>C)
c.141G>C (p.Val47=)
c.1176G>C (p.Val392=)
c.126G>C (p.Val42=)
n.471G>C
c.80G>C (p.Trp27Ser)
c.75G>C (p.Val25=)
c.177G>C (p.Val59=)
c.87G>C (p.Val29=)
c.78G>C (p.Val26=)
3g.123352540C>TCA435296545ADCY5c.-148G>A (n.-148G>A)
c.141G>A (p.Val47=)
c.1176G>A (p.Val392=)
c.126G>A (p.Val42=)
n.471G>A
c.80G>A (p.Trp27Ter)
c.75G>A (p.Val25=)
c.177G>A (p.Val59=)
c.87G>A (p.Val29=)
c.78G>A (p.Val26=)
3g.123352541A>CCA354222722ADCY5c.-149T>G (n.-149T>G)
c.140T>G (p.Val47Gly)
c.1175T>G (p.Val392Gly)
c.125T>G (p.Val42Gly)
n.470T>G
c.79T>G (p.Trp27Gly)
c.74T>G (p.Val25Gly)
c.176T>G (p.Val59Gly)
c.86T>G (p.Val29Gly)
c.77T>G (p.Val26Gly)
3g.123352541A>GCA354222723ADCY5c.-149T>C (n.-149T>C)
c.140T>C (p.Val47Ala)
c.1175T>C (p.Val392Ala)
c.125T>C (p.Val42Ala)
n.470T>C
c.79T>C (p.Trp27Arg)
c.74T>C (p.Val25Ala)
c.176T>C (p.Val59Ala)
c.86T>C (p.Val29Ala)
c.77T>C (p.Val26Ala)
3g.123352541A>TCA354222724ADCY5c.-149T>A (n.-149T>A)
c.140T>A (p.Val47Glu)
c.1175T>A (p.Val392Glu)
c.125T>A (p.Val42Glu)
n.470T>A
c.79T>A (p.Trp27Arg)
c.74T>A (p.Val25Glu)
c.176T>A (p.Val59Glu)
c.86T>A (p.Val29Glu)
c.77T>A (p.Val26Glu)
3g.123352542C>ACA354222725ADCY5c.-150G>T (n.-150G>T)
c.139G>T (p.Val47Leu)
c.1174G>T (p.Val392Leu)
c.124G>T (p.Val42Leu)
n.469G>T
c.78G>T (p.Ser26=)
c.73G>T (p.Val25Leu)
c.175G>T (p.Val59Leu)
c.85G>T (p.Val29Leu)
c.76G>T (p.Val26Leu)
dbSNP
3g.123352542C=CA1398358785ADCY5c.-150G= (n.-150G=)
c.139G= (p.Val47=)
c.1174G= (p.Val392=)
c.124G= (p.Val42=)
n.469G=
c.78G= (p.Ser26=)
c.73G= (p.Val25=)
c.175G= (p.Val59=)
c.85G= (p.Val29=)
c.76G= (p.Val26=)
3g.123352542C>GCA2577532ADCY5c.-150G>C (n.-150G>C)
c.139G>C (p.Val47Leu)
c.1174G>C (p.Val392Leu)
c.124G>C (p.Val42Leu)
n.469G>C
c.78G>C (p.Ser26=)
c.73G>C (p.Val25Leu)
c.175G>C (p.Val59Leu)
c.85G>C (p.Val29Leu)
c.76G>C (p.Val26Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123352542C>TCA2577531ADCY5c.-150G>A (n.-150G>A)
c.139G>A (p.Val47Met)
c.1174G>A (p.Val392Met)
c.124G>A (p.Val42Met)
n.469G>A
c.78G>A (p.Ser26=)
c.73G>A (p.Val25Met)
c.175G>A (p.Val59Met)
c.85G>A (p.Val29Met)
c.76G>A (p.Val26Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123352543G>ACA2577533ADCY5c.-151C>T (n.-151C>T)
c.138C>T (p.Ile46=)
c.1173C>T (p.Ile391=)
c.123C>T (p.Ile41=)
n.468C>T
c.77C>T (p.Ser26Leu)
c.72C>T (p.Ile24=)
c.174C>T (p.Ile58=)
c.84C>T (p.Ile28=)
c.75C>T (p.Ile25=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123352543G>CCA354222726ADCY5c.-151C>G (n.-151C>G)
c.138C>G (p.Ile46Met)
c.1173C>G (p.Ile391Met)
c.123C>G (p.Ile41Met)
n.468C>G
c.77C>G (p.Ser26Trp)
c.72C>G (p.Ile24Met)
c.174C>G (p.Ile58Met)
c.84C>G (p.Ile28Met)
c.75C>G (p.Ile25Met)
dbSNP gnomAD v3 gnomAD v4
3g.123352543G=CA1398358786ADCY5c.-151C= (n.-151C=)
c.138C= (p.Ile46=)
c.1173C= (p.Ile391=)
c.123C= (p.Ile41=)
n.468C=
c.77C= (p.Ser26=)
c.72C= (p.Ile24=)
c.174C= (p.Ile58=)
c.84C= (p.Ile28=)
c.75C= (p.Ile25=)
3g.123352543G>TCA435296553ADCY5c.-151C>A (n.-151C>A)
c.138C>A (p.Ile46=)
c.1173C>A (p.Ile391=)
c.123C>A (p.Ile41=)
n.468C>A
c.77C>A (p.Ser26Ter)
c.72C>A (p.Ile24=)
c.174C>A (p.Ile58=)
c.84C>A (p.Ile28=)
c.75C>A (p.Ile25=)
3g.123352544delCA2667300402ADCY5c.-152del (n.-152del)
c.137del (p.Ile46ThrfsTer?)
c.1172del (p.Ile391ThrfsTer?)
c.122del (p.Ile41ThrfsTer?)
n.467del
c.76del (p.Ser26ArgfsTer10)
c.71del (p.Ile24ThrfsTer?)
c.173del (p.Ile58ThrfsTer?)
c.83del (p.Ile28ThrfsTer?)
c.74del (p.Ile25ThrfsTer?)
gnomAD v4
3g.123352544A>CCA354222727ADCY5c.-152T>G (n.-152T>G)
c.137T>G (p.Ile46Ser)
c.1172T>G (p.Ile391Ser)
c.122T>G (p.Ile41Ser)
n.467T>G
c.76T>G (p.Ser26Ala)
c.71T>G (p.Ile24Ser)
c.173T>G (p.Ile58Ser)
c.83T>G (p.Ile28Ser)
c.74T>G (p.Ile25Ser)
3g.123352544A>GCA354222728ADCY5c.-152T>C (n.-152T>C)
c.137T>C (p.Ile46Thr)
c.1172T>C (p.Ile391Thr)
c.122T>C (p.Ile41Thr)
n.467T>C
c.76T>C (p.Ser26Pro)
c.71T>C (p.Ile24Thr)
c.173T>C (p.Ile58Thr)
c.83T>C (p.Ile28Thr)
c.74T>C (p.Ile25Thr)
3g.123352544A>TCA354222729ADCY5c.-152T>A (n.-152T>A)
c.137T>A (p.Ile46Asn)
c.1172T>A (p.Ile391Asn)
c.122T>A (p.Ile41Asn)
n.467T>A
c.76T>A (p.Ser26Thr)
c.71T>A (p.Ile24Asn)
c.173T>A (p.Ile58Asn)
c.83T>A (p.Ile28Asn)
c.74T>A (p.Ile25Asn)
3g.123352545T>ACA354222730ADCY5c.-153A>T (n.-153A>T)
c.136A>T (p.Ile46Phe)
c.1171A>T (p.Ile391Phe)
c.121A>T (p.Ile41Phe)
n.466A>T
c.75A>T (p.Thr25=)
c.70A>T (p.Ile24Phe)
c.172A>T (p.Ile58Phe)
c.82A>T (p.Ile28Phe)
c.73A>T (p.Ile25Phe)
3g.123352545T>CCA2577534ADCY5c.-153A>G (n.-153A>G)
c.136A>G (p.Ile46Val)
c.1171A>G (p.Ile391Val)
c.121A>G (p.Ile41Val)
n.466A>G
c.75A>G (p.Thr25=)
c.70A>G (p.Ile24Val)
c.172A>G (p.Ile58Val)
c.82A>G (p.Ile28Val)
c.73A>G (p.Ile25Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.123352545T>GCA354222731ADCY5c.-153A>C (n.-153A>C)
c.136A>C (p.Ile46Leu)
c.1171A>C (p.Ile391Leu)
c.121A>C (p.Ile41Leu)
n.466A>C
c.75A>C (p.Thr25=)
c.70A>C (p.Ile24Leu)
c.172A>C (p.Ile58Leu)
c.82A>C (p.Ile28Leu)
c.73A>C (p.Ile25Leu)
3g.123352545T=CA1398358787ADCY5c.-153A= (n.-153A=)
c.136A= (p.Ile46=)
c.1171A= (p.Ile391=)
c.121A= (p.Ile41=)
n.466A=
c.75A= (p.Thr25=)
c.70A= (p.Ile24=)
c.172A= (p.Ile58=)
c.82A= (p.Ile28=)
c.73A= (p.Ile25=)
3g.123352546G>ACA435296562ADCY5c.-154C>T (n.-154C>T)
c.135C>T (p.Asn45=)
c.1170C>T (p.Asn390=)
c.120C>T (p.Asn40=)
n.465C>T
c.74C>T (p.Thr25Ile)
c.69C>T (p.Asn23=)
c.171C>T (p.Asn57=)
c.81C>T (p.Asn27=)
c.72C>T (p.Asn24=)
ClinVar gnomAD v4
3g.123352546G>CCA2577535ADCY5c.-154C>G (n.-154C>G)
c.135C>G (p.Asn45Lys)
c.1170C>G (p.Asn390Lys)
c.120C>G (p.Asn40Lys)
n.465C>G
c.74C>G (p.Thr25Arg)
c.69C>G (p.Asn23Lys)
c.171C>G (p.Asn57Lys)
c.81C>G (p.Asn27Lys)
c.72C>G (p.Asn24Lys)
dbSNP ExAC gnomAD v3 gnomAD v4
3g.123352546G=CA1398358788ADCY5c.-154C= (n.-154C=)
c.135C= (p.Asn45=)
c.1170C= (p.Asn390=)
c.120C= (p.Asn40=)
n.465C=
c.74C= (p.Thr25=)
c.69C= (p.Asn23=)
c.171C= (p.Asn57=)
c.81C= (p.Asn27=)
c.72C= (p.Asn24=)
3g.123352546G>TCA354222732ADCY5c.-154C>A (n.-154C>A)
c.135C>A (p.Asn45Lys)
c.1170C>A (p.Asn390Lys)
c.120C>A (p.Asn40Lys)
n.465C>A
c.74C>A (p.Thr25Lys)
c.69C>A (p.Asn23Lys)
c.171C>A (p.Asn57Lys)
c.81C>A (p.Asn27Lys)
c.72C>A (p.Asn24Lys)
3g.123352547T>ACA354222733ADCY5c.-155A>T (n.-155A>T)
c.134A>T (p.Asn45Ile)
c.1169A>T (p.Asn390Ile)
c.119A>T (p.Asn40Ile)
n.464A>T
c.73A>T (p.Thr25Ser)
c.68A>T (p.Asn23Ile)
c.170A>T (p.Asn57Ile)
c.80A>T (p.Asn27Ile)
c.71A>T (p.Asn24Ile)
3g.123352547T>CCA354222734ADCY5c.-155A>G (n.-155A>G)
c.134A>G (p.Asn45Ser)
c.1169A>G (p.Asn390Ser)
c.119A>G (p.Asn40Ser)
n.464A>G
c.73A>G (p.Thr25Ala)
c.68A>G (p.Asn23Ser)
c.170A>G (p.Asn57Ser)
c.80A>G (p.Asn27Ser)
c.71A>G (p.Asn24Ser)
gnomAD v4
3g.123352547T>GCA354222735ADCY5c.-155A>C (n.-155A>C)
c.134A>C (p.Asn45Thr)
c.1169A>C (p.Asn390Thr)
c.119A>C (p.Asn40Thr)
n.464A>C
c.73A>C (p.Thr25Pro)
c.68A>C (p.Asn23Thr)
c.170A>C (p.Asn57Thr)
c.80A>C (p.Asn27Thr)
c.71A>C (p.Asn24Thr)
3g.123352548T>ACA354222736ADCY5c.-156A>T (n.-156A>T)
c.133A>T (p.Asn45Tyr)
c.1168A>T (p.Asn390Tyr)
c.118A>T (p.Asn40Tyr)
n.463A>T
c.72A>T (p.Pro24=)
c.67A>T (p.Asn23Tyr)
c.169A>T (p.Asn57Tyr)
c.79A>T (p.Asn27Tyr)
c.70A>T (p.Asn24Tyr)
3g.123352548T>CCA354222738ADCY5c.-156A>G (n.-156A>G)
c.133A>G (p.Asn45Asp)
c.1168A>G (p.Asn390Asp)
c.118A>G (p.Asn40Asp)
n.463A>G
c.72A>G (p.Pro24=)
c.67A>G (p.Asn23Asp)
c.169A>G (p.Asn57Asp)
c.79A>G (p.Asn27Asp)
c.70A>G (p.Asn24Asp)
3g.123352548T>GCA354222737ADCY5c.-156A>C (n.-156A>C)
c.133A>C (p.Asn45His)
c.1168A>C (p.Asn390His)
c.118A>C (p.Asn40His)
n.463A>C
c.72A>C (p.Pro24=)
c.67A>C (p.Asn23His)
c.169A>C (p.Asn57His)
c.79A>C (p.Asn27His)
c.70A>C (p.Asn24His)
3g.123352549G>ACA435296568ADCY5c.-157C>T (n.-157C>T)
c.132C>T (p.Thr44=)
c.1167C>T (p.Thr389=)
c.117C>T (p.Thr39=)
n.462C>T
c.71C>T (p.Pro24Leu)
c.66C>T (p.Thr22=)
c.168C>T (p.Thr56=)
c.78C>T (p.Thr26=)
c.69C>T (p.Thr23=)
3g.123352549G>CCA435296570ADCY5c.-157C>G (n.-157C>G)
c.132C>G (p.Thr44=)
c.1167C>G (p.Thr389=)
c.117C>G (p.Thr39=)
n.462C>G
c.71C>G (p.Pro24Arg)
c.66C>G (p.Thr22=)
c.168C>G (p.Thr56=)
c.78C>G (p.Thr26=)
c.69C>G (p.Thr23=)
3g.123352549G>TCA435296572ADCY5c.-157C>A (n.-157C>A)
c.132C>A (p.Thr44=)
c.1167C>A (p.Thr389=)
c.117C>A (p.Thr39=)
n.462C>A
c.71C>A (p.Pro24Gln)
c.66C>A (p.Thr22=)
c.168C>A (p.Thr56=)
c.78C>A (p.Thr26=)
c.69C>A (p.Thr23=)
3g.123352550G>ACA354222739ADCY5c.-158C>T (n.-158C>T)
c.131C>T (p.Thr44Ile)
c.1166C>T (p.Thr389Ile)
c.116C>T (p.Thr39Ile)
n.461C>T
c.70C>T (p.Pro24Ser)
c.65C>T (p.Thr22Ile)
c.167C>T (p.Thr56Ile)
c.77C>T (p.Thr26Ile)
c.68C>T (p.Thr23Ile)
3g.123352550G>CCA354222740ADCY5c.-158C>G (n.-158C>G)
c.131C>G (p.Thr44Ser)
c.1166C>G (p.Thr389Ser)
c.116C>G (p.Thr39Ser)
n.461C>G
c.70C>G (p.Pro24Ala)
c.65C>G (p.Thr22Ser)
c.167C>G (p.Thr56Ser)
c.77C>G (p.Thr26Ser)
c.68C>G (p.Thr23Ser)
3g.123352550G>TCA354222741ADCY5c.-158C>A (n.-158C>A)
c.131C>A (p.Thr44Asn)
c.1166C>A (p.Thr389Asn)
c.116C>A (p.Thr39Asn)
n.461C>A
c.70C>A (p.Pro24Thr)
c.65C>A (p.Thr22Asn)
c.167C>A (p.Thr56Asn)
c.77C>A (p.Thr26Asn)
c.68C>A (p.Thr23Asn)
3g.123352551T>ACA354222742ADCY5c.-159A>T (n.-159A>T)
c.130A>T (p.Thr44Ser)
c.1165A>T (p.Thr389Ser)
c.115A>T (p.Thr39Ser)
n.460A>T
c.69A>T (p.Ala23=)
c.64A>T (p.Thr22Ser)
c.166A>T (p.Thr56Ser)
c.76A>T (p.Thr26Ser)
c.67A>T (p.Thr23Ser)
3g.123352551T>CCA354222743ADCY5c.-159A>G (n.-159A>G)
c.130A>G (p.Thr44Ala)
c.1165A>G (p.Thr389Ala)
c.115A>G (p.Thr39Ala)
n.460A>G
c.69A>G (p.Ala23=)
c.64A>G (p.Thr22Ala)
c.166A>G (p.Thr56Ala)
c.76A>G (p.Thr26Ala)
c.67A>G (p.Thr23Ala)
3g.123352551T>GCA354222744ADCY5c.-159A>C (n.-159A>C)
c.130A>C (p.Thr44Pro)
c.1165A>C (p.Thr389Pro)
c.115A>C (p.Thr39Pro)
n.460A>C
c.69A>C (p.Ala23=)
c.64A>C (p.Thr22Pro)
c.166A>C (p.Thr56Pro)
c.76A>C (p.Thr26Pro)
c.67A>C (p.Thr23Pro)
3g.123352552G>ACA435296577ADCY5c.-160C>T (n.-160C>T)
c.129C>T (p.Cys43=)
c.1164C>T (p.Cys388=)
c.114C>T (p.Cys38=)
n.459C>T
c.68C>T (p.Ala23Val)
c.63C>T (p.Cys21=)
c.165C>T (p.Cys55=)
c.75C>T (p.Cys25=)
c.66C>T (p.Cys22=)
gnomAD v4
3g.123352552G>CCA354222745ADCY5c.-160C>G (n.-160C>G)
c.129C>G (p.Cys43Trp)
c.1164C>G (p.Cys388Trp)
c.114C>G (p.Cys38Trp)
n.459C>G
c.68C>G (p.Ala23Gly)
c.63C>G (p.Cys21Trp)
c.165C>G (p.Cys55Trp)
c.75C>G (p.Cys25Trp)
c.66C>G (p.Cys22Trp)
3g.123352552G=CA1398358789ADCY5c.-160C= (n.-160C=)
c.129C= (p.Cys43=)
c.1164C= (p.Cys388=)
c.114C= (p.Cys38=)
n.459C=
c.68C= (p.Ala23=)
c.63C= (p.Cys21=)
c.165C= (p.Cys55=)
c.75C= (p.Cys25=)
c.66C= (p.Cys22=)
3g.123352552G>TCA354222746ADCY5c.-160C>A (n.-160C>A)
c.129C>A (p.Cys43Ter)
c.1164C>A (p.Cys388Ter)
c.114C>A (p.Cys38Ter)
n.459C>A
c.68C>A (p.Ala23Glu)
c.63C>A (p.Cys21Ter)
c.165C>A (p.Cys55Ter)
c.75C>A (p.Cys25Ter)
c.66C>A (p.Cys22Ter)
dbSNP
3g.123352552_123352553insTCGCAACGCGCCACTCAGAAAATCCTCGACGGCATTGCCGCAAGCCGTTCCGTCCCCTTCGAGCGGGTACTCTTCGCTTTGGGTATCCGCTTTGTCGGCAAGGTGGCGGCCAAAAATCTGGCCCGTCATTTCA2569246076ADCY5c.-161_-160insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (n.-161_-160insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA)
c.128_129insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Cys43Ter)
c.1163_1164insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Cys388Ter)
c.113_114insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Cys38Ter)
n.458_459insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA
c.67_68insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Ala23GlufsTer57)
c.62_63insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Cys21Ter)
c.164_165insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Cys55Ter)
c.74_75insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Cys25Ter)
c.65_66insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Cys22Ter)
3g.123352553C>ACA354222747ADCY5c.-161G>T (n.-161G>T)
c.128G>T (p.Cys43Phe)
c.1163G>T (p.Cys388Phe)
c.113G>T (p.Cys38Phe)
n.458G>T
c.67G>T (p.Ala23Ser)
c.62G>T (p.Cys21Phe)
c.164G>T (p.Cys55Phe)
c.74G>T (p.Cys25Phe)
c.65G>T (p.Cys22Phe)
3g.123352553C>GCA354222748ADCY5c.-161G>C (n.-161G>C)
c.128G>C (p.Cys43Ser)
c.1163G>C (p.Cys388Ser)
c.113G>C (p.Cys38Ser)
n.458G>C
c.67G>C (p.Ala23Pro)
c.62G>C (p.Cys21Ser)
c.164G>C (p.Cys55Ser)
c.74G>C (p.Cys25Ser)
c.65G>C (p.Cys22Ser)
3g.123352553C>TCA354222749ADCY5c.-161G>A (n.-161G>A)
c.128G>A (p.Cys43Tyr)
c.1163G>A (p.Cys388Tyr)
c.113G>A (p.Cys38Tyr)
n.458G>A
c.67G>A (p.Ala23Thr)
c.62G>A (p.Cys21Tyr)
c.164G>A (p.Cys55Tyr)
c.74G>A (p.Cys25Tyr)
c.65G>A (p.Cys22Tyr)
3g.123352554A>CCA354222752ADCY5c.-162T>G (n.-162T>G)
c.127T>G (p.Cys43Gly)
c.1162T>G (p.Cys388Gly)
c.112T>G (p.Cys38Gly)
n.457T>G
c.66T>G (p.Pro22=)
c.61T>G (p.Cys21Gly)
c.163T>G (p.Cys55Gly)
c.73T>G (p.Cys25Gly)
c.64T>G (p.Cys22Gly)
3g.123352554A>GCA354222751ADCY5c.-162T>C (n.-162T>C)
c.127T>C (p.Cys43Arg)
c.1162T>C (p.Cys388Arg)
c.112T>C (p.Cys38Arg)
n.457T>C
c.66T>C (p.Pro22=)
c.61T>C (p.Cys21Arg)
c.163T>C (p.Cys55Arg)
c.73T>C (p.Cys25Arg)
c.64T>C (p.Cys22Arg)
3g.123352554A>TCA354222750ADCY5c.-162T>A (n.-162T>A)
c.127T>A (p.Cys43Ser)
c.1162T>A (p.Cys388Ser)
c.112T>A (p.Cys38Ser)
n.457T>A
c.66T>A (p.Pro22=)
c.61T>A (p.Cys21Ser)
c.163T>A (p.Cys55Ser)
c.73T>A (p.Cys25Ser)
c.64T>A (p.Cys22Ser)
3g.123352555G>ACA82918334ADCY5c.-163C>T (n.-163C>T)
c.126C>T (p.Ser42=)
c.1161C>T (p.Ser387=)
c.111C>T (p.Ser37=)
n.456C>T
c.65C>T (p.Pro22Leu)
c.60C>T (p.Ser20=)
c.162C>T (p.Ser54=)
c.72C>T (p.Ser24=)
c.63C>T (p.Ser21=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123352555G>CCA435296584ADCY5c.-163C>G (n.-163C>G)
c.126C>G (p.Ser42=)
c.1161C>G (p.Ser387=)
c.111C>G (p.Ser37=)
n.456C>G
c.65C>G (p.Pro22Arg)
c.60C>G (p.Ser20=)
c.162C>G (p.Ser54=)
c.72C>G (p.Ser24=)
c.63C>G (p.Ser21=)
3g.123352555G=CA1398358790ADCY5c.-163C= (n.-163C=)
c.126C= (p.Ser42=)
c.1161C= (p.Ser387=)
c.111C= (p.Ser37=)
n.456C=
c.65C= (p.Pro22=)
c.60C= (p.Ser20=)
c.162C= (p.Ser54=)
c.72C= (p.Ser24=)
c.63C= (p.Ser21=)
3g.123352555G>TCA435296586ADCY5c.-163C>A (n.-163C>A)
c.126C>A (p.Ser42=)
c.1161C>A (p.Ser387=)
c.111C>A (p.Ser37=)
n.456C>A
c.65C>A (p.Pro22His)
c.60C>A (p.Ser20=)
c.162C>A (p.Ser54=)
c.72C>A (p.Ser24=)
c.63C>A (p.Ser21=)
3g.123352556G>ACA354222753ADCY5c.-164C>T (n.-164C>T)
c.125C>T (p.Ser42Phe)
c.1160C>T (p.Ser387Phe)
c.110C>T (p.Ser37Phe)
n.455C>T
c.64C>T (p.Pro22Ser)
c.59C>T (p.Ser20Phe)
c.161C>T (p.Ser54Phe)
c.71C>T (p.Ser24Phe)
c.62C>T (p.Ser21Phe)
3g.123352556G>CCA354222754ADCY5c.-164C>G (n.-164C>G)
c.125C>G (p.Ser42Cys)
c.1160C>G (p.Ser387Cys)
c.110C>G (p.Ser37Cys)
n.455C>G
c.64C>G (p.Pro22Ala)
c.59C>G (p.Ser20Cys)
c.161C>G (p.Ser54Cys)
c.71C>G (p.Ser24Cys)
c.62C>G (p.Ser21Cys)
3g.123352556G>TCA354222755ADCY5c.-164C>A (n.-164C>A)
c.125C>A (p.Ser42Tyr)
c.1160C>A (p.Ser387Tyr)
c.110C>A (p.Ser37Tyr)
n.455C>A
c.64C>A (p.Pro22Thr)
c.59C>A (p.Ser20Tyr)
c.161C>A (p.Ser54Tyr)
c.71C>A (p.Ser24Tyr)
c.62C>A (p.Ser21Tyr)
3g.123352557A>CCA354222756ADCY5c.-165T>G (n.-165T>G)
c.124T>G (p.Ser42Ala)
c.1159T>G (p.Ser387Ala)
c.109T>G (p.Ser37Ala)
n.454T>G
c.63T>G (p.Ser21=)
c.58T>G (p.Ser20Ala)
c.160T>G (p.Ser54Ala)
c.70T>G (p.Ser24Ala)
c.61T>G (p.Ser21Ala)
3g.123352557A>GCA354222757ADCY5c.-165T>C (n.-165T>C)
c.124T>C (p.Ser42Pro)
c.1159T>C (p.Ser387Pro)
c.109T>C (p.Ser37Pro)
n.454T>C
c.63T>C (p.Ser21=)
c.58T>C (p.Ser20Pro)
c.160T>C (p.Ser54Pro)
c.70T>C (p.Ser24Pro)
c.61T>C (p.Ser21Pro)
3g.123352557A>TCA354222758ADCY5c.-165T>A (n.-165T>A)
c.124T>A (p.Ser42Thr)
c.1159T>A (p.Ser387Thr)
c.109T>A (p.Ser37Thr)
n.454T>A
c.63T>A (p.Ser21=)
c.58T>A (p.Ser20Thr)
c.160T>A (p.Ser54Thr)
c.70T>A (p.Ser24Thr)
c.61T>A (p.Ser21Thr)
3g.123352558G>ACA435296591ADCY5c.-166C>T (n.-166C>T)
c.123C>T (p.Phe41=)
c.1158C>T (p.Phe386=)
c.108C>T (p.Phe36=)
n.453C>T
c.62C>T (p.Ser21Phe)
c.57C>T (p.Phe19=)
c.159C>T (p.Phe53=)
c.69C>T (p.Phe23=)
c.60C>T (p.Phe20=)
3g.123352558G>CCA354222759ADCY5c.-166C>G (n.-166C>G)
c.123C>G (p.Phe41Leu)
c.1158C>G (p.Phe386Leu)
c.108C>G (p.Phe36Leu)
n.453C>G
c.62C>G (p.Ser21Cys)
c.57C>G (p.Phe19Leu)
c.159C>G (p.Phe53Leu)
c.69C>G (p.Phe23Leu)
c.60C>G (p.Phe20Leu)
3g.123352558G>TCA354222760ADCY5c.-166C>A (n.-166C>A)
c.123C>A (p.Phe41Leu)
c.1158C>A (p.Phe386Leu)
c.108C>A (p.Phe36Leu)
n.453C>A
c.62C>A (p.Ser21Tyr)
c.57C>A (p.Phe19Leu)
c.159C>A (p.Phe53Leu)
c.69C>A (p.Phe23Leu)
c.60C>A (p.Phe20Leu)
3g.123352559A=CA1398358791ADCY5c.-167T= (n.-167T=)
c.122T= (p.Phe41=)
c.1157T= (p.Phe386=)
c.107T= (p.Phe36=)
n.452T=
c.61T= (p.Ser21=)
c.56T= (p.Phe19=)
c.158T= (p.Phe53=)
c.68T= (p.Phe23=)
c.59T= (p.Phe20=)
3g.123352559A>CCA354222761ADCY5c.-167T>G (n.-167T>G)
c.122T>G (p.Phe41Cys)
c.1157T>G (p.Phe386Cys)
c.107T>G (p.Phe36Cys)
n.452T>G
c.61T>G (p.Ser21Ala)
c.56T>G (p.Phe19Cys)
c.158T>G (p.Phe53Cys)
c.68T>G (p.Phe23Cys)
c.59T>G (p.Phe20Cys)
dbSNP gnomAD v4
3g.123352559A>GCA354222762ADCY5c.-167T>C (n.-167T>C)
c.122T>C (p.Phe41Ser)
c.1157T>C (p.Phe386Ser)
c.107T>C (p.Phe36Ser)
n.452T>C
c.61T>C (p.Ser21Pro)
c.56T>C (p.Phe19Ser)
c.158T>C (p.Phe53Ser)
c.68T>C (p.Phe23Ser)
c.59T>C (p.Phe20Ser)
3g.123352559A>TCA354222763ADCY5c.-167T>A (n.-167T>A)
c.122T>A (p.Phe41Tyr)
c.1157T>A (p.Phe386Tyr)
c.107T>A (p.Phe36Tyr)
n.452T>A
c.61T>A (p.Ser21Thr)
c.56T>A (p.Phe19Tyr)
c.158T>A (p.Phe53Tyr)
c.68T>A (p.Phe23Tyr)
c.59T>A (p.Phe20Tyr)
3g.123352560A>CCA354222766ADCY5c.-168T>G (n.-168T>G)
c.121T>G (p.Phe41Val)
c.1156T>G (p.Phe386Val)
c.106T>G (p.Phe36Val)
n.451T>G
c.60T>G (p.Phe20Leu)
c.55T>G (p.Phe19Val)
c.157T>G (p.Phe53Val)
c.67T>G (p.Phe23Val)
c.58T>G (p.Phe20Val)
3g.123352560A>GCA354222765ADCY5c.-168T>C (n.-168T>C)
c.121T>C (p.Phe41Leu)
c.1156T>C (p.Phe386Leu)
c.106T>C (p.Phe36Leu)
n.451T>C
c.60T>C (p.Phe20=)
c.55T>C (p.Phe19Leu)
c.157T>C (p.Phe53Leu)
c.67T>C (p.Phe23Leu)
c.58T>C (p.Phe20Leu)
gnomAD v4
3g.123352560A>TCA354222764ADCY5c.-168T>A (n.-168T>A)
c.121T>A (p.Phe41Ile)
c.1156T>A (p.Phe386Ile)
c.106T>A (p.Phe36Ile)
n.451T>A
c.60T>A (p.Phe20Leu)
c.55T>A (p.Phe19Ile)
c.157T>A (p.Phe53Ile)
c.67T>A (p.Phe23Ile)
c.58T>A (p.Phe20Ile)
3g.123352561A>CCA354222767ADCY5c.-169T>G (n.-169T>G)
c.120T>G (p.Ile40Met)
c.1155T>G (p.Ile385Met)
c.105T>G (p.Ile35Met)
n.450T>G
c.59T>G (p.Phe20Cys)
c.54T>G (p.Ile18Met)
c.156T>G (p.Ile52Met)
c.66T>G (p.Ile22Met)
c.57T>G (p.Ile19Met)
3g.123352561A>GCA435296597ADCY5c.-169T>C (n.-169T>C)
c.120T>C (p.Ile40=)
c.1155T>C (p.Ile385=)
c.105T>C (p.Ile35=)
n.450T>C
c.59T>C (p.Phe20Ser)
c.54T>C (p.Ile18=)
c.156T>C (p.Ile52=)
c.66T>C (p.Ile22=)
c.57T>C (p.Ile19=)
3g.123352561A>TCA435296598ADCY5c.-169T>A (n.-169T>A)
c.120T>A (p.Ile40=)
c.1155T>A (p.Ile385=)
c.105T>A (p.Ile35=)
n.450T>A
c.59T>A (p.Phe20Tyr)
c.54T>A (p.Ile18=)
c.156T>A (p.Ile52=)
c.66T>A (p.Ile22=)
c.57T>A (p.Ile19=)
3g.123352562A>CCA354222768ADCY5c.-170T>G (n.-170T>G)
c.119T>G (p.Ile40Ser)
c.1154T>G (p.Ile385Ser)
c.104T>G (p.Ile35Ser)
n.449T>G
c.58T>G (p.Phe20Val)
c.53T>G (p.Ile18Ser)
c.155T>G (p.Ile52Ser)
c.65T>G (p.Ile22Ser)
c.56T>G (p.Ile19Ser)
3g.123352562A>GCA354222769ADCY5c.-170T>C (n.-170T>C)
c.119T>C (p.Ile40Thr)
c.1154T>C (p.Ile385Thr)
c.104T>C (p.Ile35Thr)
n.449T>C
c.58T>C (p.Phe20Leu)
c.53T>C (p.Ile18Thr)
c.155T>C (p.Ile52Thr)
c.65T>C (p.Ile22Thr)
c.56T>C (p.Ile19Thr)
3g.123352562A>TCA354222770ADCY5c.-170T>A (n.-170T>A)
c.119T>A (p.Ile40Asn)
c.1154T>A (p.Ile385Asn)
c.104T>A (p.Ile35Asn)
n.449T>A
c.58T>A (p.Phe20Ile)
c.53T>A (p.Ile18Asn)
c.155T>A (p.Ile52Asn)
c.65T>A (p.Ile22Asn)
c.56T>A (p.Ile19Asn)
3g.123352563T>ACA354222771ADCY5c.-171A>T (n.-171A>T)
c.118A>T (p.Ile40Phe)
c.1153A>T (p.Ile385Phe)
c.103A>T (p.Ile35Phe)
n.448A>T
c.57A>T (p.Ser19=)
c.52A>T (p.Ile18Phe)
c.154A>T (p.Ile52Phe)
c.64A>T (p.Ile22Phe)
c.55A>T (p.Ile19Phe)
3g.123352563T>CCA354222772ADCY5c.-171A>G (n.-171A>G)
c.118A>G (p.Ile40Val)
c.1153A>G (p.Ile385Val)
c.103A>G (p.Ile35Val)
n.448A>G
c.57A>G (p.Ser19=)
c.52A>G (p.Ile18Val)
c.154A>G (p.Ile52Val)
c.64A>G (p.Ile22Val)
c.55A>G (p.Ile19Val)
3g.123352563T>GCA354222773ADCY5c.-171A>C (n.-171A>C)
c.118A>C (p.Ile40Leu)
c.1153A>C (p.Ile385Leu)
c.103A>C (p.Ile35Leu)
n.448A>C
c.57A>C (p.Ser19=)
c.52A>C (p.Ile18Leu)
c.154A>C (p.Ile52Leu)
c.64A>C (p.Ile22Leu)
c.55A>C (p.Ile19Leu)
3g.123352564G>ACA435296603ADCY5c.-172C>T (n.-172C>T)
c.117C>T (p.Leu39=)
c.1152C>T (p.Leu384=)
c.102C>T (p.Leu34=)
n.447C>T
c.56C>T (p.Ser19Leu)
c.51C>T (p.Leu17=)
c.153C>T (p.Leu51=)
c.63C>T (p.Leu21=)
c.54C>T (p.Leu18=)
dbSNP gnomAD v2 gnomAD v4
3g.123352564G>CCA435296605ADCY5c.-172C>G (n.-172C>G)
c.117C>G (p.Leu39=)
c.1152C>G (p.Leu384=)
c.102C>G (p.Leu34=)
n.447C>G
c.56C>G (p.Ser19Ter)
c.51C>G (p.Leu17=)
c.153C>G (p.Leu51=)
c.63C>G (p.Leu21=)
c.54C>G (p.Leu18=)
3g.123352564G=CA1398358792ADCY5c.-172C= (n.-172C=)
c.117C= (p.Leu39=)
c.1152C= (p.Leu384=)
c.102C= (p.Leu34=)
n.447C=
c.56C= (p.Ser19=)
c.51C= (p.Leu17=)
c.153C= (p.Leu51=)
c.63C= (p.Leu21=)
c.54C= (p.Leu18=)
3g.123352564G>TCA435296606ADCY5c.-172C>A (n.-172C>A)
c.117C>A (p.Leu39=)
c.1152C>A (p.Leu384=)
c.102C>A (p.Leu34=)
n.447C>A
c.56C>A (p.Ser19Ter)
c.51C>A (p.Leu17=)
c.153C>A (p.Leu51=)
c.63C>A (p.Leu21=)
c.54C>A (p.Leu18=)

Number of alleles fetched